Large family with restless leg syndrome may have novel gene
February 5, 2009 by Grace Ibay
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A person with restless leg syndrome (RLS) has an irresistible urge to move the body to temporarily stop odd sensations in the legs. RLS causes uncomfortable sensations in the legs or arms that have been described as “burning, itching, tickling sensation” likened to hundreds of ants crawling in the muscle.
Anywhere from 7% to 10% of the population in North America and Europe suffer from RLS, and it is more common in women than men, those with iron deficiency, end-stage renal disease or pregnancy. RLS also becomes more severe with age. Symptoms are worse at night or when the …read more
Is obesity all (just) in the mind? Genetically…
January 12, 2009 by Grace Ibay
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There is no doubt that obesity is primarily caused by poor eating habits and inactive lifestyle. But a meta-analysis of several obesity studies found that six new obesity genes are expressed in the brain.
Scientists from the international GIANT (Genetic Investigation of Anthropometric Parameters) consortium analyzed data from 15 genome-wide association studies and identified six new candidate genes that were related to regulation of body weight. Several of these new genes are highly expressed or known to act in the brain, emphasizing the role of the central nervous system in predisposition to obesity.
UPDATE: Endurance Geek made me rethink …read more
New autism loci is "protective"
November 13, 2008 by Grace Ibay
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It’s not too often in genetics that we hear about finding evidence that a gene lowers the risk of disease.
This latest news must have been greeted with cautionary hope at the American Society of Human Genetics meeting in Philadelphia. According to the Scientist, a large-effect allele that provides protection against autism was found on chromosome 5 near the semaphorin 5A (SEMA5A) gene, which is involved in guiding neural axons during development. The same group also found two genes not previously linked to autism, one at the tip of chromosome 20’s short arm, and one at the end of chromosome …read more
Seasonal Affective Disorder linked to mutation
November 4, 2008 by Grace Ibay
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The cold and short days of winter usually make people eat and sleep more. Some may even have cabin fever or claustrophobia from being indoors most days. These are normal reactions for most of us during the fall to winter season. However, a person who suffers from seasonal affective disorder may experience more serious reactions than just the "winter blahs".
A severe type of depression, seasonal affective disorder (SAD) affects about 6 percent of the US population. The symptoms and mood changes can be devastating, and come back year after year. It is usually treated with a light therapy …read more
Finding the gene for longevity
October 7, 2008 by Grace Ibay
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It’s not exactly the secret of immortality, but scientists have discovered the nearest thing to the secret of a long life. It’s in your genes.
Or rather, it’s in the gene called FOXO3A or the so-called “long life gene”, which The Hawaii Lifespan Study found was associated with better health and a longer life. The team led by Drs. Bradley Wilcox followed 8,000 Japanese-American men who had regular health exams since the 1960s, where they found that men who lived an average 98 years – the longevity group – had similarities in their genotypes.
Men who carry one copy of the …read more
Genetic breakthrough for migraine sufferers
MRI of a migraine
Migraine is the most common cause of episodic headache, and by far the most common neurological cause of a doctor’s visit. It affects some 15% of the world’s population.
Researchers from Helsinki University, Finland and the Sanger Institute, UK were able for the first time to convincingly demonstrate a genomic locus to be linked to migraine susceptibility in two diverse populations – 1700 patients from 210 Finnish and Australian families. This is especially interesting as Finnish and Australian populations are genetically distant. It also tied together previous research, resulting in very robust evidence for pinpointing the susceptibility region.
Researchers identified one gene locus …read more
Smokers and ex-smokers – lung cancer gene identified
A research team comprising scientists from MD Anderson, Johns Hopkins University and the Insitutute for Cancer Research and the University of Cambridge, UK have identified two inherited genetic variations (SNPs) on chromosome 15 associated with increased risk of lung cancer for smokers and former smokers. Individuals who have ever smoked and who have one or two copies of either of these SNPs have increased risks ranging from 28% to 81% of developing lung cancer.
The findings are a major step forward in identifying those at high risk for non-small cell lung cancer and for understanding how smoking and …read more
Childhood cataract gene identified
Genetic material has been analyzed from members of a large Swiss family, the majority of whom suffered from auto-somal dominant juvenile cataract. From the DNA, researchers at ETH Zurich and the University Zurich identified the chromosomal location and exact molecular defect in the coding region of the gene responsible for the type of childhood cataract. Until now, no human disease could be associated with this gene.
The corresponding protein arising from the gene belongs to a family of monocarboxylate transporters which move small molecules across cell membranes. Surprisingly, this genetic defect may also lead to the condition of renal glucosuria, a kidney defect which results …read more
7 new prostate cancer risk factors identified
Prostate cancer
(Picture courtesy of BBC)
UK scientists have found seven new sites in the human genome that are linked to men’s risk of developing prostate cancer. Dr Ros Eales and Prof Doug Easton from The Institute of Cancer Research and University of Cambridge respectively, found one gene called MSMB which could possibly be used in screening for prostate cancer and disease monitoring. Another of the sites harbors a gene called LMTK2 which might be a target for new treatments. The data suggests these newly identified genetic alterations are present in over half of all prostate cancer cases. They each increase a …read more
Major stress in early pregnancy may lead to schizophrenia in children
Researcher Ali S. Khashan of the University of Manchester, England and colleagues report that women who undergo an extremely stressful event during the first three months of pregnancy have an increased risk of having children who develop schizophrenia.
Schizophrenia is a disabling condition associated with abnormal brain structure and function, and it is believed to begin in early brain development. Risk of the condition is influenced by susceptibility genes that can interact with environmental factors that occur during pregnancy.
The researchers’ data was drawn from 1.38 million Danish births occurring between 1973 and 1995. A national registry linked mothers to close family members, and …read more




