Three genes linked to Lou Gehrig’s disease identified

Washington, Sep 10 (ANI): Researchers at Michigan Technological University have identified three genes that play a major role in the most common type of amyotrophic lateral sclerosis (ALS), generally known as Lou Gehrig’s disease.

The team of mathematicians, led by Shuanglin Zhang, isolated the genes from the many thousands scattered throughout human DNA.

Zhang noted that the discovery does not mean an end to ALS, but it could provide scientists with valuable clues as they search for a cure.

“I felt very urgent to find the genes for ALS,” Zhang said.

“This is very nice work. It’s very challenging to map genes for complex diseases, and while many statistical methods have been developed, most don’t work well in practice. Zhang’s group has developed a method to detect genes and gene-gene interaction in complex diseases and provided evidence that it works,” said Xiaofeng Zhu, an associate professor of epidemiology at Case Western Reserve University’s School of Medicine.

“Their findings will need to be confirmed by other researchers, but I think this will be very useful for the investigators who are trying to find genes underlying complex diseases such as ALS,” said Zhu.

According to the ALS Association, only about 10 percent of patients have familial ALS, a directly inherited form of the usually fatal neuromuscular disorder, while the remaining 90 percent are diagnosed with the sporadic form of the disease.

While everyone has the three genes in question, but in people with sporadic ALS, they differ from those in people who don’t have ALS.

The mathematicians were not surprised when they tracked down the location of the genes.

“Everybody has 23 chromosomes, and the three genes on chromosomes 2, 4, and 10 interact. If you have this combination of the three genes, you are at high risk of developing the disease. It’s really exciting, especially because my husband has sporadic ALS. Maybe they can find a cure by blocking the genes,” explained Zhang’s wife Qiuying Sha.

ALS destroys the nerves in the brain and spinal cord that control voluntary movement, eventually leading to paralysis.

Zhang’s team used a new statistical method to analyse the genetic codes of 547 individuals, 276 with sporadic ALS and 271 without.

The method, a two-locus interaction analysis approach, allows the researchers to identify multiple genes associated with a complex illness.

The data set they analyzed was provided by National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center at the Coriell Institute, a publicly funded “bank” or repository for human cells, DNA samples, clinical data, and other information that aims to accelerate research on the genetics of nervous system disorders.

The study has been published in the open access journal BMC Medical Genetics. (ANI)

Single gene behind essential tremor, Parkinson’s disease identified

Washington, September 2 (ANI): A single gene promotes development of essential tremor in some patients and Parkinson’s disease in others has been identified by an international team of researchers.

In a study report published in Parkinsonism and Related Disorders, Mayo Clinic researchers in Florida and their collaborators worldwide note that patients with essential tremor shake when they move, while those with Parkinson’s disease shake when they are at rest.

They further state that a variant in LINGO1, a gene involved in neuronal survival, is the first proven evidence of a common genetic component in the development of both disorders.

Analysing their findings, the researchers have come to the conclusion that mutations in this gene are potentially responsible for five percent of patients with Parkinson’s disease, and five percent of patients with essential tremor.

Lead researcher Dr. Carles Vilarino-Guell, of Mayo Clinic, said: “There is a mutation in the gene that must be causing or contributing to Parkinson’s disease in some people and essential tremor in others.”

He, however, added that that did not mean that people with essential tremor have an increased risk of developing Parkinson’s disease.

The findings are intriguing because “although essential tremor and Parkinson’s disease are considered to be different diseases, researchers have been arguing for a long time about whether essential tremor is a milder, preliminary form of Parkinson’s disease, and they have been looking for the genetic connection between these disorders,” he said.

“Now we know LINGO1 is the first gene identified,” he added.

The scientists have yet to identify any specific mutation or mutations on LINGO1 responsible for either disorder.

“The easiest explanation is that there are two separate and clearly distinct mutations in the gene contributing to the disorders. But because this gene doubles the risk of developing either disease and it is found at the same frequency in both diseases, it is possibly the same mutation,” Dr. Vilarino-Guell said.

“Both diseases are also affected by environmental factors, and that may influence which disorder a person would be more likely to develop,” he added. (ANI)

Gene linked with language, speech, reading disorders identified

Washington, August 28 (ANI): An international group of American and Spanish researchers have identified a new candidate gene for Specific Language Impairment.

Mabel Rice at the University of Kansas, Shelley Smith of University of Nebraska Medical Center, and Javier Gayan of Seville-based Neocodex in Spain have shed light on the KIAA0319 in the current issue of the Journal of Neurodevelopmental Disorders.

The researchers have revealed that the gene found on Chromosome 6 was associated with variability in language abilities in a study of children with Specific Language Impairment (SLI) and their family members.

They say that the gene was also found to be linked with variability in speech and reading abilities.

According to the researchers, the children they selected for the study had no hearing loss, general intellectual deficit or autism

Language ability involves vocabulary and grammar, whereas speech involves the accuracy of sound production. Both language and speech ability contribute to a child’s ability to read.

The researchers say that the finding that a candidate gene could influence all three abilities suggests a common pathway that could contribute to overlapping strengths or deficiencies across speech, language and reading.

Rice said: “We don’t understand the biological mechanisms yet but it’s important that we have identified the first gene that could be involved across these three different dimensions of development.”

The study involved 322 individuals, including children with SLI, their parents, siblings, and other family members.

“We have come to realize that language really sets the platform for reading to emerge and to thrive. Without a solid language system, it’s much harder to get reading going,” said Rice. (ANI)

Weight loss shows spark fears of child eating disorders

Melbourne, Aug 24 (ANI): In wake of the increasing number of eating disorder cases, experts have warned that kids should be banned from watching weight loss shows.

Figures from Queensland Health show the number of children aged 13 or under being diagnosed with eating disorders at community mental health services jumped from 14 in 2002-2003 to 57 in 2007-2008.

The most severe child eating disorder cases rose slightly in five years, from 13 children aged under 14 admitted to hospital in the public sector between 2002-2003 to 17 in 2007-2008.

Queensland Health said the figures could underestimate the extent of cases, as more children were seen by the private sector.

Julie Parker, general manager of the Butterfly Foundation, which supports people with eating disorders, said that weight loss shows are ‘dangerous’ for children.

“We constantly have a dieting and thin culture in front of us and children and young people are exposed like never before,” the Courier Mail quoted Parker as saying.

She said kids in particular should not be exposed to extreme weight loss programs as they presented “a very warped and unrealistic view of exercise, dieting and health”.

Eating Disorders Association (Qld) Resource Centre co-ordinator Desi Achilleos said any information that made people feel bad about themselves for not having an ideal body weight and size was unsafe for children. (ANI)

Ciggies ‘deaden’ smokers’ taste buds

Washington, Aug 20 (ANI): Cigarette smokers have fewer and flatter taste buds, says a new study on Greek soldiers.

The research on the tongues of 62 soldiers, published in the open access journal BMC Ear, Nose and Throat Disorders, has demonstrated how cigarettes deaden the ability to taste.

Pavlidis Pavlos led a team of researchers from the Aristotle University of Thessaloniki who used electrical stimulation to test the taste threshold of the soldiers and endoscopes to measure the number and shape of a kind of taste bud called fungiform papillae.

He said, “Statistically important differences between the taste thresholds of smokers and non-smokers were detected. Differences concerning the shape and the vascularisation of fungiform papillae were also observed”.

By applying electrical current to the tongue, a unique metallic taste can be generated. Measuring how much current is required before a person perceives this sensation allows determination of their taste sensitivity.

The 28 smokers in the study group scored worse than the 34 non-smokers. Upon close examination with a contact endoscope, the smoker’s tongues had flatter fungiform papillae, with a reduced blood supply.

Pavlos concludes, “Nicotine may cause functional and morphological alterations of papillae, at least in young adults”. (ANI)

Scientists identify promising compound to treat epilepsy

Washington, May 5 (ANI): Scientists have identified a new anticonvulsant compound, called paxilline, which may cease the progression of epilepsy, a neurological disorder marked by abnormal electrical activity in the brain that leads to recurring seizures.

The study by Carnegie Mellon University researchers is based on a previous work in which scientists identified a specific molecular target whose increased activity is linked with seizure disorders- a potassium channel known as the BK channel.
“We have found a new anticonvulsant compound that eliminates seizures in a model of epilepsy,” said Alison Barth, associate professor of biological sciences at Carnegie Mellon’s Mellon College of Science.

She added: “The drug works by inhibiting ion channels whose role in epilepsy was only recently discovered. Understanding how these channels work in seizure disorders, and being able to target them with a simple treatment, represents a significant advance in our ability to understand and treat epilepsy.” he researchers found that after a first seizure, BK channel function was markedly enhanced.

Thus, the neurons became overly excitable and were firing with more speed, intensity and spontaneity, which led the researchers to believe that the abnormal increase in the activity of the channels might play a role in causing subsequent seizures and the emergence of epilepsy. n the current study, the researchers tested this theory by blocking the ion channels using a BK-channel antagonist called paxilline.

Using an experimental model for epilepsy, Barth tested whether paxilline could reduce or prevent experimentally induced seizures, as it could normalize aberrant brain activity induced by previous seizures.

And to their surprise, the researchers discovered that the compound was effective at completely blocking subsequent seizures. The drug is orally available, and works in the low nanomolar range,” said Barth.

As the drug is effective in low concentrations and can be taken as a pill, it could turn out to be an especially promising compound for treatment in epilepsy patients.

The researchers believe that targeting the BK channels and the abnormal brain activity that they induce might one day be used as a way to prevent the progression of seizure disorders over time, thus attacking the root cause of epilepsy.

The findings have been published in the current issue of the journal Epilepsia. (ANI)

Gene linked to narcolepsy identified

London, May 4 (ANI): Researchers have identified a gene linked to narcolepsy, a disorder that causes disabling daytime sleepiness, sleep attacks, irresistible bouts of sleep and disturbed sleep at night.

The gene is known for its role in the immune system, which strongly suggests that autoimmunity, in which the immune system turns against the body’s own tissues, plays an important role in the disorder.

The research team has found a gene called HLA-DQB1*0602.

This is one of the genes that encodes HLA proteins, which mark the surface of the body’s cells and help the immune system identify foreign proteins.

“The link between narcolepsy and autoimmunity was proposed decades ago, but efforts to verify it have failed repeatedly. Current findings leave little doubt that autoimmunity plays a role,” Nature quoted Dr Merrill Mitler, a program director with the National Institute of Neurological Disorders and Stroke (NINDS) as saying.

During the study, the researchers focused on narcolepsy with cataplexy – a sudden loss of muscle tone that can cause a person to collapse, with or without falling asleep.

This is due to the death of a small group of brain cells that normally regulate the sleep-wake cycle by releasing chemicals called hypocretins.

Some researchers believe that the HLA variants found in people with narcolepsy-cataplexy predispose them to an autoimmune reaction that destroys their hypocretin-producing cells.

In addition, people with narcolepsy-cataplexy are also more likely to have unique variants of the TCRA gene, which encodes a receptor protein on the surface of T cells.

The findings revealed that narcolepsy-cataplexy is linked to autoimmunity and involves T-cells. The research could lead to new approaches to prevention and treatment. One possibility may be preventing the disorder by stopping the effects of the autoimmune process.

“If we can define the changes in the T cell receptor associated with narcolepsy-cataplexy, we might be able to develop drugs that block the protein’s abnormal activity and prevent the onset of the disorder,” said Dr Emmanuel Mignot, director of the Center for Narcolepsy at Stanford University School of Medicine in Palo Alto, Calif., and a Howard Hughes Medical Institute investigator.

In people with the HLA variants that predispose to narcolepsy-cataplexy, there is about a 20-fold higher frequency of the disorder if variants in the TCRA gene are present.

The study appears in Nature Genetics. (ANI)

Psychiatric disorders common in adults who have had anorexia

Washington, March 27 (ANI): After studying 51 teenagers with anorexia nervosa and an equal number of healthy persons for a number of years, a team of Swedish scientists have come to the conclusion that psychiatric disorders are common in adults who have had anorexia.

“This study is unique in an international perspective. It is the only study in the world that reflects the natural course of anorexia nervosa in the population,” says Elisabet Wentz, Associate Professor in Child and Adolescent Psychiatry at the Sahlgrenska Academy.

In a report based on the findings of the study, initiated in 1985, the researchers point out that the groups have been investigated and compared several times as the years have passed.

They say that three women have still not recovered from anorexia, 18 years after the start of the study.

According to them, 13 people, or around 25 per cent, are on disability benefit or have been signed off sick for more than six months due to an eating disorder or other psychiatric disorder.

The research team further say that 39 per cent of the subjects have at least one other psychiatric disorder, in addition to the eating disorder. The most common of these is obsessive compulsive disorder.

However, the study’s findings also contain some positive surprises.

“Previous studies have shown that anorexia is a diagnosis with a very poor prognosis, with as many as one in five patients dying as a result of the disease. In contrast, we have not had a single death among the subjects of our study,” says Elisabet Wentz.

Studies conducted in the past have shown that infertility is a common complication for adult women who have had anorexia, as are increased risks of giving birth prematurely and of post-natal depression.

The researchers say that the women in the two groups in the current study have had essentially the same number of children, but the women who have had anorexia were younger when they had their first child.

According to them, such kids had a lower birth weight than children of women in the control group.

“None of the women who had had children still suffered from an eating disorder, but it is still more common that they worry about whether their babies are putting on weight,” says Elisabet Wentz.

The findings of the new study have been published in the British Journal of Psychiatry and in the International Journal of Eating Disorders. (ANI)

Inadequate sleep may cause lifestyle diseases

A good night’s sleep not only makes one alert and energetic throughout the day but also keeps away some lifestyle diseases like hypertension, arthritis and heartburn, a study has claimed.

According to the study, lack of sleep is the biggest cause for lifestyle diseases. Almost two-thirds of those surveyed in the study reported the presence of at least one medical condition, most of which are commonly managed in the primary care setting.

Some of the diseases caused due to the lack of sleep found by the study were hypertension (29 per cent), arthritis (28 per cent) and heartburn or gastroesophageal reflux disease (19 per cent).

Conditions like depression (18 per cent), anxiety disorder (12 per cent), diabetes (11 per cent), heart disease (10 per cent) and lung disease (five per cent) also turned out to be the main side effects of lack of sleep.

“As sleep is vital to our health and well being, we must not cut ourselves short from the amount of sleep that we get or suffer from sleep problems,” Ramnathan Iyer, a counselor for sleep disorders, said commenting on the rising lifestyle diseases.

According to him, people should take control of their sleep problems before it takes control of them.

“Effective management of sleep problems begins with a visit to your doctor. Early assessment and action can prevent short-term sleep problems from developing into a chronic one,” Iyer said.

Obesity has also been associated with a greater number of sleep-related problems, said J C Suri, President of the Indian Sleep Disorder Association. “Sleep is important for mental, physical and emotional well-being,” he said.

A condition of sleep disturbance — insomnia — refers to the difficulty in initiation, maintenance, duration or quality of sleep. It results in the impairment of daytime function.

As a result of insomnia, people may experience poor concentration, lower productivity and poorer work quality. It can also make a person fatigue, irritable or forgetful and can lead to stress and strained relationships, experts said.

Most insomnia is co-morbid with other medical or psychiatric problems. People, who reported a medical diagnosis, were more likely than those without a diagnosis to sleep less than six hours per night on weekdays and experience symptoms of insomnia, they said.

In order to address them, the Indian Sleep Disorders Association has declared March as ‘Sleep Awareness Month’ to generate awareness about the importance of sleep and the need to address sleep disorders.

The objective is also to increase the awareness about Sleep Disorders among people, so that they are able to consult their physicians for proper and timely treatment.

No clear link between lack of vitamin D and depression

Washington, Mar 18 (ANI): A new study by researchers at the University of Warwick has shown that there is no clear link between lack of vitamin D and depression.

Lack of Vitamin D has been related to depression and the symptoms of Seasonal Affective Disorder (SAD).

Exposure to sunlight stimulates vitamin D in the skin and a shortage of sunlight in the winter has been put forward as one possible cause of SAD.

However, Warwick Medical School researchers, led by Dr Oscar Franco, have found low levels of vitamin D in the blood may not be associated with depression.

In the study, the researchers recruited more than 3,000 people and tested levels of vitamin D (25-hydroxyvitamin D) in the blood. They then carried out a questionnaire with the participants to assess the prevalence of depressive symptoms.

Vitamin D deficiency exists when the concentration of 25-hydroxy-vitamin D (25-OH-D) in the blood serum occurs at 12ng/ml (nanograms/millilitre) or less. The normal concentration of 25-hydroxy-vitamin D in the blood serum is 25-50ng/ml.

The researchers found there was no clear association between depressive symptoms and the concentration of vitamin D in the blood.

“Few studies have explored the association between blood 25-hydroxyvitamin D concentrations and depression in the general population. A deficiency of vitamin D has also been attributed to several chronic diseases, including osteoporosis, common cancers, autoimmune and cardiovascular diseases,” Dr Oscar Franco, Assistant Clinical Professor in Public Health, said.

The researchers recruited 3,262 community residents aged 50-70 from Beijing and Shanghai in China.

Franco said his study did not evaluate whether the depressive symptoms were seasonal and suggested more studies needed to be done.

“Previous studies into the effects of vitamin D supplementation have produced mixed results. More studies are still needed to evaluate whether vitamin D is associated with seasonal affective disorders, but our study does raise questions about the effects of taking more vitamin D to combat depressive symptoms,” Franco said.

This study was carried out in collaboration with colleagues from the Institute for Nutritional Sciences, Chinese Academy of Sciences in China.

The study has been published in the Journal of Affective Disorders. (ANI)

BP drug can help in erasing bad memories

Humans can have bad or good memories. Good memories give us happiness whereas bad memories can torture sometime. Recent study has shown that a drug, used for treating for high blood pressure can be used to remove bad memories.

Animal studies have already shown that fear memories can be altered at the time they are recalled because at this crucial stage the memories are “reconsolidated” in the brain. In the recent study, Dutch researchers created a fearful memory in 60 study subjects using artificial means. Fearful memory was created by associating pictures of spiders with a mild electric shock delivered to the wrists of the study subjects. After 24 hours, when study subjects were shown spider pictures, they give “startle” response – a measure of fear. When they were given the beta-blocker drug propranolol, there was a marked reduction in the startle response. The spider fear seems to vanish permanently from mind of study subjects.

Lead researcher, Professor Merel Kindt and colleagues from the University of Amsterdam said: “Our findings may have important implications for the understanding and treatment of persistent and self-perpetuating memories in individuals suffering from emotional disorders.”

Dr Daniel Sokol, a lecturer in medical ethics at St George’s, University of London, added: “Removing bad memories is not like removing a wart. It will change our personal identity since who we are linked to our memories. We must reflect on the knock-on effects that this will have on individuals, society and our sense of humanity.”

Osteoblast cell injections may speed up fracture healing

Washington, Feb 12 (ANI): Osteoblast cell obtained from a patient’s own bone marrow can help quicken the healing of a long bone fracture, according to a new study.

Dr Seok-Jung Kim from the Catholic University College of Medicine, Seoul, involved 64 patients in their study, of which 31 were given the ‘Osteoblast’ treatment and 33 left to recover the normal way.

The researchers observed that the patients injected with the ‘osteoblast cell’ healed faster that the normally treated ones.

“The cultured osteoblast injection group showed fracture healing acceleration of statistical significance, and there were no specific patient complications when using this treatment. Cultured osteoblast injection should therefore be considered as a successful treatment option for long-bone fracture,” Dr. Kim said.

“There was significantly more bone growth in the experimental group, compared to the control group. Autologous cultured osteoblast transplant is a safe and effective method for accelerating the rate of fracture healing,” he added.

Dr. Kim points out that the bone union process is often left to natural healing, and such cases are generally so delayed that they eventually need bone transplants.

The researcher says that ‘Osteoblast cell’ injections can prove beneficial in such cases.

“Time has increasingly become the most important factor in clinical decision-making. While fractures generally will eventually heal, bone union can frequently be delayed to the extent that it requires bone transplantation. Not only does this cause psychological and physical pain to the individual patient, it’s also not economically viable,” Dr. Kim said.

“Although bone transplant remains the most effective method of bone union, osteoblast injections provide an alternative which can be performed under local anesthesia with no requirement for surgery,” Dr. Kim added.

The study has been published in the open access journal BMC Musculoskeletal Disorders. (ANI)

Regular three-minute workout bursts best for health

Washington, January 28 (ANI): A regular and intense three-minute workout can do wonders in boosting your metabolism, says a new study.

According to Professor James Timmons, who worked with a team of researchers from Heriot-Watt University Edinburgh, Scotland, brief high-intensity exercises repeated in every couple of days may significantly take down the risk of diabetes.

Timmons investigated the effect of ‘high-intensity interval training’ (HIT) on the metabolism of sixteen sedentary male participants, who used exercise bikes to perform a quick sprint at their highest possible intensity.

It was found that there was a significant effect on their body’s ability to process sugars.

He said, “The risk of developing cardiovascular disease and type two diabetes is substantially reduced through regular physical activity. Unfortunately, many people feel they simply don’t have the time to follow current exercise guidelines.

“What we have found is that doing a few intense muscle exercises, each lasting only about 30 seconds, dramatically improves your metabolism in just two weeks.”

He continued: “Current guidelines, with regards to designing exercise regimes to yield the best health outcomes, may not be optimal and certainly require further discussion.

“The low volume, high intensity training utilized in our study substantially improved both insulin action and glucose clearance in otherwise sedentary young males and this indicates that we do not yet fully appreciate the traditional connection between exercise and diabetes”.

He added: “This novel approach may help people to lead a healthier life, improve the future health of the population and save the health service millions of pounds simply by making it easier for people to find the time to exercise”.

The research was published in the open access journal BMC Endocrine Disorders.(ANI)

Long-chain fats like oleic acid more likely to induce inflammation

Washington, January 9 (ANI): University of Kentucky scientists in the United States have revealed that long-chain fats like oleic acid, which is found in olive oil, are more prone to induce inflammation.

Erik Eckhardt and his colleagues say that long-chain fats seem to promote increased intestinal absorption of pro-inflammatory bacterial molecules called lipopolysaccharides (LPS).

While dietary fats that have short chains—such as those found in milk and cheese products—can be absorbed directly into the bloodstream from the intestines, long-chain fats need to be first packaged by the intestinal cells into particles known as chylomicrons—large complexes similar to HDL and LDL particles.

The researchers say that they wanted to determine whether some unwanted LPS particles, routinely shed by the bacteria that inhabit the human gut, might also be sneaking in the chylomicrons.

According to them, their hypothesis turned out to be correct.

Upon treating cultured human intestinal cells with oleic acid, the research team observed significant secretion of LPS together with the chylomicron particles, a phenomenon that was not observed when the cells were treated with short-chain butyric acid.

The researchers also refer to mouse studies that made similar findings, and showed that high amounts of dietary oleic acid, not butyric acid, promoted significant absorption of LPS into the blood and lymph nodes and subsequent expression of inflammatory genes.

Eckhardt believes that his team’s findings may pave the way for future therapies for Crohn”s disease and other inflammatory bowel disorders.

He also says that his study once again highlights the importance of the diverse bacteria that call our intestines home.

A research article on the study has been published in the January issue of JLR. (ANI)

Soon, a love pill that helps people fall head over heels for anyone!

London, Jan 8 (ANI): For people who thought love was miles away from their lives, take heart, for scientists are on the way to develop a potion which could be slipped into a sweetheart”s drink to trigger everlasting love.

Yes, you heard it right, scientists believe that one day the feelings of love can be induced by popping a pill or smelling perfume, reports the Telegraph.

Researchers are developing drugs that can boost that most human of emotions.

The research team is studying the brain chemistry held responsible for the complex feelings that draw people to a particular member of the opposite sex.

Animal testing is beginning to shed light on the complex neural and genetic components of love in the same way they have led to pharmaceutical therapies for anxiety, phobias and post-traumatic stress disorders.

The behavioural scientist Professor Larry Young, of Emory University, Georgia, writing in the journal Nature, said: “For one thing, drugs that manipulate brain systems at whim to enhance or diminish our love for another may not be far away.” (ANI)

Old gastrointestinal drug may offer anti-aging treatment

Washington, Jan 7 (ANI): An 80-year old drug, once used to treat diarrhea and other gastrointestinal disorders, may help slow down the aging process, say researchers.

Recent animal studies have shown that the drug, clioquinol, can reverse the progression of Alzheimer”s, Parkinson”s and Huntington”s diseases.

However, scientists had a variety of theories to attempt to explain how a single compound could have such similar effects on three unrelated neurodegenerative disorders.

Now, researchers at McGill University have discovered that clioquinol acts directly on an aging gene called, CLK1, often informally called ‘clock-1.’

“Clioquinol is a very powerful inhibitor of clock-1,” said Dr. Siegfried Hekimi, McGill”s Strathcona Chair of Zoology and Robert Archibald & Catherine Louise Campbell Chair in Developmental Biology.

“Because clock-1 affects longevity in invertebrates and mice, and because we”re talking about three age-dependent neurodegenerative diseases, we hypothesize that clioquinol affects them by slowing down the rate of aging,” Hekimi added.

Hekimi said that the exact mechanism of how clioquinol inhibits CLK-1 is till under investigation.

“One possibility is that metals are involved as clioquinol is a metal chelator,” he said.

Chelation is a type of binding to metal ions and is often used to treat heavy metal poisoning.

Hekimi said he is optimistic but cautious when asked whether clioquinol could eventually become an anti-aging treatment.

“The drug affects a gene which when inhibited can slow down aging. The implication is that we can change the rate of aging. This might be why clioquinol is able to work on this diversity of diseases that are all age-dependent,” he added.

The advance online edition of the study was published in Oct. 2008 in the Journal of Biological Chemistry. (ANI)

Protein that may protect against Alzheimer”s identified

Washington, Jan 7 (ANI): An international team of researchers have claimed that a protein, found in increased levels in the Alzheimer’s brain, might actually protect against the neurodegenerative disease.

Researchers from Universite du Quebec a Montreal (UQAM) Biological Sciences Department, Armand-Frappier Institute and the University of Valladolid in Spain have successfully demonstrated the protective and reparative role of apolipoprotein D, or ApoD, in neurodegenerative diseases such as Alzhiemer’s, Parkinson’s, stroke and dementia.

In earlier studies, investigator Eric Rassart of the Universite du Quebec a Montreal (UQAM) had found increased levels of ApoD in the brains of people with several types of neurodegenerative disorders, including Alzheimer”s.

During the study including biological sciences Ph.D. student Sonia Do Carmo, the researchers used two types of genetically modified mice: one type with increased levels of ApoD in the brain and a second type with no ApoD.

The mice were then exposed to neurodegenerative agents. A group of the modified mice and a control group (unmodified) were exposed to paraquat, a widely used herbicide that has been shown to increase the risk of Parkinson”s.

The same experiment was performed by injecting two groups with a virus that causes encephalitis.

They found that mice modified for increased levels of ApoD had the best outcomes, with a better ability to combat the diseases and a higher survival rate than the unmodified mice. On the other hand mice with no ApoD displayed the poorest outcomes.

These experiments serve to illustrate the protective and reparative role of this protein.

However, lead researcher Professor Eric Rassart of the Universite du Quebec a Montreal (UQAM) said further studies are required to translate it into effective drugs against neurodegenerative conditions.

“You cannot simply inject ApoD, as it has to enter the brain in order for it to be active. We have successfully demonstrated the role of ApoD, but now we need to understand the action of this protein,” said Rassart,

“Only then will we be able to think about creating a drug to prevent these types of diseases and to slow their progression. All the same, this discovery by Sonia Do Carmo and her collaborators is a significant breakthrough, as we know very little about the mechanisms of neurodegenerative diseases,” he added. (ANI)

New congenital neutropenia syndrome and genetic mutation behind it found

London: An international team of scientists has discovered a new syndrome associated with severe congenital neutropenia (SCN), a rare disorder in which children lack sufficient infection-fighting white cells.

The team-consisting of 14 researchers from the Medical School of Hannover in Germany and12 from other research institutions, including the National Center for Biotechnology Information at the National Library of Medicine, National Institutes of Health-have also identified the genetic cause of the syndrome: mutations in the gene Glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

“Our discovery will help facilitate genetic diagnosis in this newly defined group of severe congenital neutropenia patients,” The New England Journal of Medicine quoted Dr. Christoph Klein, Hannover Medical School, the principal investigator of the study, as saying.

“Knowledge about the underlying genetic defect is an important first step in developing a targeted therapy,” he added.

The researchers also claim that they have identified a new pathway that is critical in controlling the life and death of immune cells.

“This may eventually open new horizons for the development of drugs interfering with that pathway, which is important not only for patients with SCN, but potentially also for patients with other blood disorders,” said Dr. Kaan Boztug, Hannover Medical School, lead author of the study.

For their study, the researchers focused on five children of Turkish descent, four of whom were known to be related. The children did not have identified mutations but had recessive SCN, which means they had inherited mutations from both of their parents. The children were identified for the study using the SCN International Registry.

Analysing data on the children to look for suspect genes, the researchers determined that the gene of interest was among 258 on chromosome 17. Further positional analysis at NCBI reduced the number of suspect genes to 36.

A previous study on mice had already shown impaired neutrophil activity and increased susceptibility to bacterial infection in the animals lacking the protein glucose-6-phosphatase, catalytic subunit 3 (G6PC3).

The G6PC3 gene happened to be among the 36 genes the team was examining, and DNA analysis indeed showed that all five study patients had the same mutations in this gene.

Upon sequencing the DNA of 104 additional patients from the SCN International Registry with unknown mutations, the researchers found G6PC3 mutations in seven.

Although the seven children had different types of G6PC3 mutations than the original five study subjects, they shared a constellation of clinical symptoms.

The researchers also revealed that 11 of the 12 patients had heart defects or urogenital malformations, and 10 had unusually prominent subcutaneous veins.

They said that that grouping of clinical characteristics had not previously been described with SCN, and defined a new syndrome associated with G6PC3 mutation.

The study also showed that insufficient supply of glucose causes neutrophils to undergo stress, and if the body”s stress response was not adequate, the neutrophils would die.

The researchers said that the connection between insufficient glucose and cellular stress response might be relevant to other more common diseases, especially those related to glucose disorders and glycogen-storage disorders.

“The study”s findings are important for the care of patients with SCN, and for building an understanding of the diverse genetic causes of this disease,” said Dr. David Dale, University of Washington, who wrote an accompanying editorial on the study in The New England Journal of Medicine.

“We do not know yet if patients with mutations in the G6PC pathway are at risk of developing leukemia and if they will need as frequent blood tests as other SCN patients. Knowledge of G6PC3 mutations will also alert physicians to look for cardiac defects in children with severe neutropenia as a clue to making this specific diagnosis,” the researcher added.

Scientists link premature births to mental illness

Sydney, Jan 1 (ANI): Researchers at Sweden”s Karolinska Institute have found a link between premature births and mental illness.

The study involving more than 500,000 infants found that preemies were twice as likely to be admitted to hospital for a psychiatric disorder in their early 20s than those born at full term.

Almost 5.5 per cent of those born very early had been admitted to hospital for a psychiatric disorders such as mood disorders, stress-related complaints and suicide attempts or deaths, compared to 2.4 per cent of those born at full-term.

“Pre-term birth carries some risk for psychiatric disorders requiring hospitalisation in adolescence and young adulthood,” The Sydney Morning Herald quoted the researchers as saying.

During the study, the researchers tracked premature babies born from 1973 to 1979 through their medical records.

Infants, who were born at 33 to 36 weeks, were at risk with three per cent having been admitted to hospital for a psychiatric disorder.

Sydney University”s Brain and Mind Research Institute executive director Professor Ian Hickie said that premature birth disrupts a critical phase of brain development in the mid to late stages of pregnancy.

“If you”re born prematurely it”s likely that in some time that period of brain development is interrupted,” he said.

“So the critical brain connections and the critical brain pathways are probably harmed by premature birth.

“The effect on some of those brain pathways is probably continued throughout brain development,” he added.

Prof Hickie said that focussing on maternal health would decrease the likelihood of prematurity,

“There are some really common issues like smoking in pregnancy and alcohol use in pregnancy which continue to be common and contribute to premature birth and difficulties in the womb,” he said.

The study is published in the journal Paediatrics. (ANI)

Patterns of brain activity can help predict anxiety treatment success

Washington, January 2 (ANI): American psychologists say that a network of emotion-regulating brain regions, implicated in the pathological worry that can grip patients with anxiety disorders, may also be used to predict whether a patient would benefit from treatment or not.

Jack Nitschke, assistant professor and clinical psychologist at the University of Wisconsin-Madison School of Medicine and Public Health, says that high levels of brain activity in an emotional centre called the amygdala reflect patients” hypersensitivity to anticipation of adverse events.

At the same time, he adds, high activity in a regulatory region known as the anterior cingulate cortex is associated with a positive clinical response to a common antidepressant medication.

In a research article in the online edition of the American Journal of Psychiatry, the lead author writes that for individuals with anxiety disorders, the anticipation of a bad outcome can be worse than the outcome itself.

He points out that some people spend so much time worrying about getting into a negative situation or having a panic attack that the condition becomes debilitating.

“In an extreme situation, they might not even leave their home,” he says.

With a view to finding out how the brain responds to anticipation, the researchers used functional magnetic resonance imaging (fMRI) to examine patients with generalized anxiety disorder (GAD) as they viewed a set of negative and neutral images.

The subjects were shown pre-image cues several seconds before each picture, so that they would know what to expect: a circle before a neutral image and a minus sign before an aversive image.

The researchers observed that GAD patients, though did not show any difference compared to healthy subjects in brain activation in response to the aversive or neutral pictures themselves, displayed unusually high levels of amygdala activity in response to both anticipatory cues.

Nitschke said that the response suggested that the patients were hypersensitive to the anticipation of any stimuli, even those they were told would not be negative.

“In response to both of those anticipatory signals, the GAD subjects — the anxious folks — are showing huge amounts of amygdala activation that is much more than what healthy control subjects showed,” he said.

He further said that the high levels of amygdala activity seen in GAD patients reflected an indiscriminate and disproportionately large response to the idea that something negative might happen in the future, even in a lab setting where they knew nothing bad would actually occur.

“It suggests that there are differences in anticipatory brain processing in these individuals,” he says, adding that the result has important implications for other related disorders as well.

“That”s the crux of what”s debilitating in people with anxiety disorders, whether it”s panic disorder, obsessive compulsive disorder or post-traumatic stress disorder,” the researcher said.

Nitschke said that the patterns of brain activity also seemed to hold predictive power for how patients would respond to treatment for their anxiety.

After brain scanning, the GAD patient participating in the study were administered an eight-week course of treatment with a common antidepressant called venlafaxine (Effexor).

The researchers said that clinical improvement on the medication was associated with higher levels of pre-treatment brain activity in the anterior cingulate cortex (ACC) in anticipation of both aversive and neutral stimuli.

They said that activity in the ACC, a regulatory brain region important for modulating emotional responses, has been shown to predict clinical outcome in patients with depression.

“When you look within the GAD patient population, that area is what predicts whether they respond to this treatment. What it suggests is that people who still have some residual functioning of that area are the people who are more likely to get better (with this drug),” says Nitschke.

Since anxiety disorders encompass a range of conditions with diverse symptoms and causes, Nitschke says, it becomes very important to select the most appropriate treatment approach for an individual patient.

Highlighting the fact that anxiety disorders are also frequently associated with depression, Nitschke’s team revealed that they were planning to examine GAD patients with and without major depressive disorder.

“This is a critical new direction that the field is already moving in — using fMRI to predict treatment response. Hopefully we”ll be able to use that eventually to determine what kind of treatment to provide to people,” he said. (ANI)