X-linked spinal muscular atrophy gene identified
 

X-linked spinal muscular atrophy gene identified
A research team has identified a gene associated with X-linked spinal muscular atrophy (XL-SMA), a motor neuron disease. The researchers screened 6 XL-SMA families and found mutations in the ubiquitin-activating enzyme E1 gene (UBE1). In a press release from the Muscular Dystrophy Association, coauthor Lisa Baumbach-Reardon, PhD, associate research professor of pediatrics and neurology, University of Miami Miller School of Medicine, Florida, stated, "It's been a long road, but we never gave up, because we promised the families who have this devastating illness that . . . we would someday identify the causal disease gene."

Ramser, Juliane, Mary Ellen Ahearn, Claus Lenski, Kemal O. Yariz, Heide Hellebrand, Michael von Rhein, Robin D. Clark, Rita K. Schmutzler, Peter Lichtner, Eric P. Hoffman, Alfons Meindl, & Lisa Baumbach-Reardon. "Rare Missense and Synonymous Variants in UBE1 Are Associated with X-Linked Infantile Spinal Muscular Atrophy." American Journal of Human Genetics 82(2008): 188-193.

Wednesday January 16, 2008
http://rarediseases.about.com/b/2008...identified.htm