ALS Mutations
In VAPB Gene
Seen Only in Brazil

Mutations in the gene for VAPB, a protein that helps transport substances inside nerve cells, does not appear to be a cause of amyotrophic lateral sclerosis (ALS) in British or Italian patients, although a VAPB mutation has previously been shown to cause inherited ALS in seven Brazilian families. (See “Cellular Transport Protein,” ALS Newsmagazine, November 2004.) Mayana Zatz and colleagues have speculated that the mutation in these families may stem from a shared Portuguese ancestor.

Now, Janine Kirby at the University of Sheffield (United Kingdom) and colleagues report in the May 29 issue of Neurology that a comparison of the DNA of 301 people with ALS and 120 without the disease has not revealed any significant differences in the VAPB gene in the two groups.

The study participants included 278 people with sporadic (not inherited) ALS and 23 with familial (inherited) ALS who didn’t have mutations in the SOD1 gene, the most well-known cause of familial ALS.

In 2006, Aldo Quattrone at the Institute of Neurological Sciences in Mangone, Italy, and colleagues reported similar results, finding no significant VAPB gene differences in the DNA of 125 unrelated ALS patients and 150 people without the disease in Southern Italy.

“Taking these studies into consideration, it is suggested that VAPB mutations do not significantly contribute to the genetic causes of SALS [sporadic ALS] in the UK and Northern Europe,” the authors write. “However, further studies of the Portuguese ALS population may identify ancestors of the common founder, and it is possible that VAPB mutations may contribute to SALS in other populations.”


http://www.als-mda.org/research/news/070622vapb.html