All in the Family

Team of researchers identify gene involved in familial ALS

(RxWiki News) A team of researchers from Johns Hopkins and the National Institutes of Health has discovered a gene that appears to cause some instances of familial amyotrophic lateral sclerosis (ALS).

The breakthrough could lead to novel ways to treat the fatal neurological disease, the cause of which still baffles researchers.

"If you look at the spectrum of diseases caused by dysfunctional genes, our knowledge of almost all of them has grown out of the familial form of those diseases,” said study leader Bryan J. Traynor, M.D., an assistant professor in the Department of Neurology at the Johns Hopkins University School of Medicine and chief of the Neuromuscular Diseases Research Group at the National Institutes of Health.

ALS destroys motor neurons that control bodily movement, including those that involve breathing, resulting in muscular atrophy and death. About 5 percent to 10 percent of ALS patients have the inherited form of the neurodegenrative disease.

About 6,000 people are diagnosed with ALS each year in America. Patients usually live 3 to six years from diagnosis of the disease.

By identifying genes associated with diseases, researchers can insert those genes in animals, creating models that can help them determine what causes pathologies and develop ways to halt them.

The research team worked with two ALS patients, members of an Italian family found by Adriano Chiò, M.D., of the University of Turin, an ALS specialist who maintains a registry of all cases of the disease in northern Italy, and by Jessica Mandrioli, M.D., of the University of Modena. Using exome-sequencing on the two patients and 200 people without the disease, scientists looked for gene differences. Their search turned up a gene called VCP (valosin-containing protein).

The researchers went on to find four different genetic mutations that affect VCP in five individuals with ALS, none of which were found in healthy individuals, suggesting VCP causes some familial ALS cases.

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Review Date: 
December 13, 2010