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 limbs are at rest or inactive. There are medications for treating RLS but the NIH acknowledges that it is difficult to properly diagnose. And one drug that helps one patient may actually make it worse for another.

The Mayo Clinic Proceedings has recently reported that Mayo Clinic scientists found a large Indiana family (7 generations and 88 members) with restless leg syndrome. The researchers tested the family for genes and locations that have previously linked to RLS but could not find any linkage. The scientists believe that a novel gene may be responsible for restless leg syndrome in this family.

Research is a long way from ultimately identifying that gene, but if there ever would be one, then scientists can investigate its normal and mutated function. Discoveries like that could lead to new drug therapies for RLS.

The article appears here - Mayo Clinic Proceedings February 2009 vol. 84 no. 2 134-138 and the report here - Mayo Clinic Researchers Suspect a Novel Gene is Causing Restless Legs Syndrome in a Large Family

image: sxc

Microorganisms and bacteria living in our intestines help with proper digestion of food by breaking down nutrients and helping our body absorb them better. Although much is known about the function of microorganisms, there is still much to study about the relationship between gut microorganisms and weight.  Scientists are particularly interested in the relationship between the kinds of gut microorganisms and amount of calories harvested from carbohydrates and sugars, as evidence to this could help with weight management. Researchers also want to find out how the various microorganism communities compare in different individuals.

A new study appearing online this week found that gut microorganisms are linked with obesity. Researchers found that obese individuals carried more hydrogen-producing and consuming microbes that could increase the amount of energy processed from their food.

The study also found that the kinds of microbe communities change after gastric bypass surgery-assisted weight loss. Changing the gut environment – its acidity, amount of stomach acid, even length of the intestine – can potentially change the types of microorganism that thrive inside.

More research is needed to confirm the results, especially regarding the effect on weight. It is not known whether microbial community in the gut is a cause or a consequence of obesity. But if gut microorganisms are found to contribute to weight problems, then it is possible to develop treatments for obesity or identify markers that can predict at risk individuals.

The study will be published online this week in the Proceedings of the National Academy of Sciences. [source: GenomeWeb]

Irochka - Fotolia.com

It’s the Sunday edition of Genetics and Health so let’s sum up some of the genetic research and news that came up this week.

A grand rounds lecture "Molecular Genetics of Colorectal Cancer" by Vincent Yang presents an overview on the role of genes in colorectal carcinoma, and shares initial findings on a cell cycle modulator gene.

The NY Times article, "Man Who Helped Set the Stage for Nobel-Winning Work Has Left Science" profiles Dr. Douglas C. Prasher, the scientist who provided the essential piece of evidence that helped the work of Nobel Price Chemistry winners Roger Y. Tsien and Martin Chalfie. You’ll be surprised to find out Dr. Prasher’s latest employment.

A "pleasure" gene is behind an obese person’s insatiable desire to eat more.

The Personal Genome Project is open for business and it’s looking for volunteers agree to make public their medical history AND DNA sequence. PGP is a nonprofit, volunteer database project by Harvard University.

  The gene for male-pattern baldness (androgen receptor) has traditionally been linked to the X chromosome which means mom passes it on to her sons. Now, two new independent studies published yesterday at the Nature Genetics identified association between hair loss and chromosome 20.

A genome-wide association study (GWAS) for male-pattern baldness, or androgenetic alopecia, identified a new association at chromosome 20p11.22, between the PAX1 and FOXA2 genes, and confirmed a previous association with the gene encoding the androgen receptor in the X. Tim Spector and colleagues found that 1 in 7 men carry both the chromosome X and chromosome 20 variants, and that these men have a 7-fold risk of having pattern baldness.

Another independent GWAS found overwhelming evidence for five SNPs on chromosome 20p11 and confirmed the results on X, but did not find any gene-gene interaction between the two regions, suggesting that the locus on chromosome 20 may play an as-yet unidentified role in hair loss. These new results now show that more than one gene is responsible for hair loss and explains why there are similarities between a balding father and his son.

image used with permission by Newscom

For years doctors and researchers have noticed a link between some intestinal diseases and some forms of arthritis.  This is often seen in patients with ankylosing spondylitis who the go on to develop inflammatory bowel disease.

Researchers at Landspitali University Hospital, Reykjavik, assessed the occurrence of IBD and AS among relatives and the risk of inheriting either and both disorders. Their results provide compelling evidence of a link.

For further information, click on:

http://www.interscience.wiley.com/journal/arthritis

In Norway  researchers are privileged to enjoy an extensive geneologic database collected by a company called deCode.  Norway’s population, unlike most of the rest of the world, is homogenous - that is the country’s people have hardly mixed with other global cultures so their genetic make-up has remained the same for many, many years.  That means that genetic differences are more likely to be detected.  These differences coupled with a family history database extending over 50 years means disease and outcomes can be mapped within families.

Penny