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Gene linked with language, speech, reading disorders identified

August 28, 2009 By admin Leave a Comment

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)

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Scientists unravel genes linked to lung cancer in smokers

August 21, 2009 By admin Leave a Comment

London, Aug 21 (ANI): British researchers claim to have unravelled the genetics underlying a smoker’s risk of developing lung cancer.

Study leader Professor Richard Houlston has identified three areas of DNA that are linked to lung cancer risk in smokers.

Two of them also influence the type of cancer, which develops.

The research team found specific differences associated with lung cancer risk on chromosomes 5, 6 and 15.

It showed that people with genetic changes on chromosome 5 were more likely to develop a type of cancer called adenocarcinoma.

The region highlighted on chromosome 6 appears to influence whether a patient developed adenocarcinoma or another type called squamous cell carcinoma.

And two independent sites on chromosome 15 were found to have a role in whether or not a smoker develops lung cancer.

The researchers suggest that current or former smokers who carry one copy of each of these genetic variants increase their risk of lung cancer by 28pct.

The risk increases to 80pct in smokers who carry two copies of these genetic variants.

“The next step is to dig deeper to pinpoint which gene, or genes in these regions, cause the increased risk of developing lung cancer and how they actually trigger this increase,” BBC News quoted Houlston as saying.

Dr Lesley Walker, director of cancer information at Cancer Research UK who partly funded the research, said smoking was responsible for the vast majority of lung cancers.

“This research shows that inherited genetic variation accounts for some of this risk and the type of lung cancer that develops,” she said.

She added: “The best thing a smoker can do to reduce their risk of lung cancer, and a range of other life-threatening conditions, is to quit.”

The findings appear in Cancer Research journal. (ANI)

Filed Under: Science News Tagged With: british researchers, cancer information, cancer research journal, Cancer research uk, carcinoma, chromosome 15, chromosome 6, chromosomes, Genetic changes, genetic variation, lung cancer, lung cancer risk, lung cancer study, lung cancers, professor richard, smokers, Squamous Cell Carcinoma, study leader, type of cancer, Type Of Lung Cancer

Schizophrenia linked to specific DNA region

July 10, 2009 By admin Leave a Comment

London, July 9 (ANI): An international group of researchers have for the first time come up with genetic evidence linking schizophrenia to a specific region of DNA – on chromosome 6.

Lead researcher Nancy Buccola, Assistant Professor of Clinical Nursing at LSU Health Sciences Center New Orleans, says that this is the same area where key genes for immune function are located.

The researchers recruited study participants, people with diagnoses of schizophrenia or schizoaffective disorder, as well as controls from the general population.

They analysed data collected and also conducted a meta-analysis of data from the Molecular Genetics of Schizophrenia, International Schizophrenia Consortium and SGENE data sets – thousands of DNA samples.

The team point out that while a single gene does not appear to be the source of the development of schizophrenia, variations on chromosome 6 appeared to be associated with higher risk.

According to them, these variations were found most often in people with schizophrenia, leading the scientists to believe that these common variations contribute to the development of schizophrenia.

They further said that the area of chromosome 6, in the same area where genes important to the immune system function, provokes questions about whether or not treatments for autoimmune disorders might also be helpful in treating schizophrenia.

“Schizophrenia can be a devastating disease, and while treatments are improving, there are still people who do not respond or only partially respond,” Nature magazine quoted Buccola, principal investigator on the LSUHSC study, as noting.

“Understanding the underpinnings of this illness will open doors to new and potentially better treatments,” the researcher added.

The research was supported by funding from the National Institute of Mental Health and the National Alliance for Research on Schizophrenia and Depression.

“Scientists have been looking for schizophrenia susceptibility genes since the early 1900s. This study shows that these genes can be found and sets the stage for future research,” says Buccola. (ANI)

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Scientists uncover genetic ‘hotspot’ for breast cancer risk

February 16, 2009 By admin Leave a Comment

London, Feb 16 (ANI): Scientists at Vanderbilt-Ingram Cancer Center have uncovered a new genetic “hotspot” that is linked with breast cancer susceptibility in Asian women.

Dr. Wei Zheng, who led the research team, has revealed that this region is on chromosome 6.

The researcher said that the genetic “locus” might help guide efforts to find the specific genes linked with non-inherited forms of the disease.

Genetics have a major role to play in breast cancer, and scientists have already identified a few of breast cancer susceptibility genes – such as BRCA1 and BRCA2. Mutations in such genes increase risk of inherited forms of breast cancers.

“But the genetic factors identified so far explain only a small percent of all the cases in the general population,” Nature magazine quoted Zheng, an Ingram Professor of Cancer Research, professor of Medicine and the director of the Vanderbilt Epidemiology Center, as saying.

The genetic factors responsible for the vast majority of cases are unclear, “so there has been a lot of interest to identify additional genetic factors for breast cancer,” said Zheng.

For the study, the researchers focussed on a population of Asian women in Shanghai, China, which they had been studying for more than a decade to identify nutritional, environmental and genetic factors associated with disease risk.

By using “genome-wide association,” the researchers started searching for genetic variations in Asian women with breast cancer compared to healthy controls.

The investigators analysed more than 600,000 genetic markers – called SNPs (single nucleotide polymorphisms) – for differences between the groups.

From the first group of more than 3,000 women, they selected 29 of the most promising SNPs associated with breast cancer. Then they narrowed down these 29 candidate SNPs to a single SNP that exhibited strong and consistent association with breast cancer.

They also found a similar association in an independent group of American women, indicating that the results might be relevant for other ethnic populations.

“This SNP explains about 18 percent of the (breast cancer) cases in the general population. Compared to other previously identified SNPs, “this one would probably rank as No. 1 or No. 2 in terms of effect size,” said Zheng.

If a woman has just one copy of this SNP, her risk of breast cancer increases about 40 percent. With two copies of this SNP, the risk increases about 60 percent.

The SNP lies on chromosome 6 in a part of the genome with no known genes, “upstream” from the gene that encodes the estrogen receptor 1 (ERa).

While ERa is known to influence breast cancer aggressiveness, the impact of this candidate SNP on ERa is unclear.

“At this point, we actually don’t know the function of this SNP we identified,” he said.

However, the SNP does appear strongly associated with ER-negative cases of breast cancer, which carry a worse prognosis than ER-positive cases.

Zheng said: “Eventually, we hope that we can use this model to identify high-risk women for chemoprevention or regular cancer screening to reduce their breast cancer mortality.”

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

Filed Under: Science News Tagged With: brca1 and brca2, brca2 mutations, breast cancer, breast cancer susceptibility, breast cancers, cancer research, cancer susceptibility genes, candidate snps, chromosome 6, disease genetics, genetic factors, genetic locus, genetic markers, Genetic variations, ingram professor, london feb, nature magazine, shanghai china, single nucleotide polymorphisms, wei zheng

Scientists unravel genes linked to lung cancer in smokers

Scientists uncover genetic ‘hotspot’ for breast cancer risk

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