Gene discovery offers hope of screening test for bone disease

London, May 3 (ANI): An international team of scientists, led by the University of Edinburgh, has identified three genes linked to the development of Paget”s disease, a painful bone condition.

The researchers believe the genes are involved in regulating the rate at which bone is repaired, providing an explanation of why the disease might occur.

Paget”s disease disrupts the body”s normal process of breaking down old bone and replacing it. The condition leads to enlarged and malformed bones and patients can suffer from bone pain, brittle bones susceptible to fractures, and advanced arthritis.

The scientists said that identifying the genes that predispose people to the bone disease could lead to the development of a screening test to identify those most at risk, and improve access to preventative treatment.

The researchers studied the genes of 1250 patients with Paget”s disease to find the genes that could cause the condition.

The team – which included scientists from Spain, UK, New Zealand, and Australia – found that three genes that were faulty more frequently in patients with the bone disease than in healthy people.

Together, the faulty genes accounted for the development of Paget”s disease in about 70 per cent of cases.

The results confirmed that genes play a crucial role in the development of Paget”s disease, which explains why many patients have a family history of the condition.

It is hoped that the discovery will allow early detection of the disease and allow doctors to give preventative treatment before bones have become damaged.

The study has been published in the journal Nature Genetics. (ANI)

Low-moderate alcohol consumption does not harm women”s bone health

Washington, April 28 (ANI): A new study has offered more evidence that low to moderate alcohol consumption does not harm bone health in women.

There is lack of information on low to moderate alcohol consumption and bone health, especially in women.

This may be particularly important because alcoholics tend to have weak bones – possibly due to low levels of vitamin D, which would hinder absorption of dietary calcium in the small intestine.

To help fill in a knowledge gap in this area, researchers at the National Cancer Institute (NCI) and the US Department of Agriculture ARS Beltsville Human Nutrition Research Center teamed up to rigorously test whether they could demonstrate any negative effects of low to moderate alcohol consumption on bone health in postmenopausal women.

This study was part of the Women”s Alcohol Study, which involved 51 postmenopausal women who did not smoke or use hormone replacement therapy.

The research team measured the effects of controlled alcohol consumption during three periods of time. In one of these experimental periods, subjects consumed an alcohol-free beverage once each day.

During the other two, they consumed either 15 or 30 g of nearly pure alcohol (Everclear) served up in orange juice.

These amounts of alcohol are equivalent to 1 or 2 glasses, respectively, of wine or a bottle of beer. Each study period lasted for 8 weeks, during which time all meals were also provided to the women- either in the USDA”s Beltsville Human Nutrition Research Center or provided as “take-out” for the weekends.

The researchers did not find any negative effects of either dose of alcohol on circulating levels of vitamin D.

Low to moderate intake also did not affect a variety of markers (single-nucleotide polymorphisms or SNPs), which influence alcohol metabolism.

These results suggest that the relationship previously documented between alcohol consumption and bone disease in alcoholics may only be seen in very heavy drinkers, or may be due to something other than the alcohol itself.

“It looks like low to moderate alcohol consumption, at least over the short term, does not harm bone health. Collectively, when all the available published epidemiologic data are considered, it looks like low to moderate alcohol may actually have a beneficial effect,” said Dr. Somdat Mahabir.

The results of the study were presented on April 27, 2010 at the Experimental Biology 2010 meeting in Anaheim. (ANI)

Ancient Irish skeletons could help solve mystery of rare genetic bone disease

Dublin, August 25 (ANI): Two ancient skeletons with a rare genetic bone disease unearthed from a medieval Irish graveyard may hold key insights for medical experts in solving the mysterious ailment.

The two skeletons – one around 800-years-old and the other 1,100-years-old – dug up along with the remains of more than 1,000 men, women and children from the Ballyhanna graveyard site at Ballyshannon, Co Donegal, have attracted the attention of international medical researchers.

There have only been 16 cases of the hereditary bone growth disorder, now known as multiple osteochondromas, identified in ancient remains worldwide.

Dr Eileen Murphy, an archaeology lecturer at Queen’s University Belfast, believes that the discovery of the remains – afflicted by massive bone growths – could help modern-day clinicians glean more information about that unusual debilitating condition.

According to Dr Murphy, the two cases could “help inform clinicians” in understanding the disease.

“I think it is good for clinicians to look at how diseases change and the way they turn up in the body over time. Some of the Jericho cases (dating from the Middle Bronze Age) are very old and can show if it has progressed in any way or mutated,” said Dr Murphy, who is writing a paper on the two cases.

A sample of the 800-year-old remains from Skeleton 331 known as ‘Ballyhanna Man’ was sent to a genetics unit in Italy for further examination.

“We took a sample of the bone to send off to genetics units but the DNA in the bone was too degraded,” Dr Murphy explained.

However, the research team holds hopes that in the future, a specialized laboratory may be able to extract DNA of sufficient quality for analysis to provide clues as to the evolution of the disease, which is estimated to affect one in 50,000 people.

Researchers from the Institute of Technology in Sligo and Queen’s University Belfast are collaborating on the Ballyhanna project.

The 800-year-old remains of the worst-affected man, who died aged between 25 to 35 years old, showed he would have been physically disabled due to massive bony projections.

It is likely that he would have suffered from pain and have been recognized by others as having a physically debilitating condition from a young age.

The remains of the other man, who died a few hundred years earlier aged around 35-50 years, had less prominent growths.

In both cases, they were interred in the community graveyard, suggesting they were not shunned and treated as equals. (ANI)

4-Year-Old Ashish Dies After Polio Vaccination; Case Filed

Four-year-old Ashish, a resident of Todapur village near Patel Nagar, died hours after he was given pulse polio drops in West Delhi on Sunday.

However, the authorities called the death of the child as a coincidence as Ashish, who was reportedly suffering from malnutrition, was given vial together with 150 other children, including Ashish’s two siblings.

No other case of any complication has been reported thus far.

A case has already been lodged at the Trilokpuri police station.

Dr. CM Khanijo, officer on special duty, Pulse Polio Programme said, “We were told the boy was very weak and had to be carried in his mother’s arms. A four-year-old should ideally come walking.”

Physicians at RML Hospital also stated that Ashish’s death because of the vaccine was doubtful.

A senior doctor at RML Hospital said, “The child must have had an underlying medical condition and the death after the polio dose was administered appears to be a coincidence.”

The postmortem will be conducted on Tuesday at the RML Hospital, and the officials are waiting for the postmortem report before taking any action.

Dr. Khanijo said, “Soon after the matter was brought to our notice, we visited the family in Todapur village. We are told the child was malnourished. In fact, his siblings, who were also administered OPV, suffer from some bone disease and are not very healthy. His siblings as well as the over 145 children who were given the vaccine are doing fine. The chances of death resulting from the vaccine are less, but we’re waiting for the postmortem report.”

Delhi Health Minister Kiran Walia said, “We have asked the Drug Control Authority to check the quality of the polio vaccine.”

She, however, said the child did not die because of the Oral Polio Vaccine (OPV) as 150 other children were also administered the polio drops from the same vial.

“None of these children have reported any complications. The child did not die because of the vaccine. Even the child’s brother and sister were given drops from the same vial,” Walia said.

She said the government was waiting for the post-mortem report.

Officials said Union Health Ministry has been informed about the incident.

Now, test that predicts when a woman will reach menopause

Washington, May 26 (ANI): Scientists have made a new discovery that might be of great help for women planning to have babies later in life.

For the first time, scientists have been able to identify the genetic factors that influence the age at which natural menopause occurs.

It is hoped that this can allow women in their late 30s and early 40s to pinpoint accurately how long they have left in which to conceive and when they should start trying for a baby.

Lisette Stolk, a researcher from Erasmus University Medical Centre in the Netherlands, said at the annual conference of the European Society of Human Genetics that a greater understanding of the factors influencing age at menopause might also help to improve the clinical treatment of infertile women.

Stolk and colleagues analysed genetic data from nine studies involving 10,339 menopausal women.

They found 20 single letter changes in the genetic code that were associated with having an early menopause.

The variants, known as single nucleotide polymorphisms (SNPs), were located at four different sites on chromosomes 19 and 20, two of the coiled packages of DNA that house the genes.

None of the variants had been identified before. What effect they have is unclear, but the scientists suspect they influence the ovaries or the brain.

“We found that the 20 SNPs were all related to a slightly earlier menopause and women who had one of them experienced menopause nearly a year earlier than others,” said Stolk.

“We know that ten years before menopause women are much less fertile, and five years before many are infertile. In Western countries, where women tend to have children later in life and closer to menopause, age at menopause can be an important factor in whether or not a particular woman is able to become a mother,” Stolk added.

Other effects of earlier menopause include an increased risk of the bone disease osteoporosis, the joint disease osteoarthritis and of heart disease, although it can also offer some protection against the risk of breast cancer. (ANI)