Large family with restless leg syndrome may have novel gene
February 5, 2009 by Grace Ibay
Filed under Health
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
Um, the title you chose here is very misleading. The family does not have a potentially “novel gene” — they may have a mutation at a novel LOCUS.
A “novel gene” implies that there is a gene in the human genome that scientists have not yet discovered. The actual situation is that the Mayo scientists think that the family is transmitting a mutation at a novel locus (i.e. the gene is almost certainly known to science–it just hasn’t been linked to RLS yet).
There’s a huge difference.