Researchers Discover Second ‘Culprit’ Gene Linked to ALS

posted on Jan 23 by Guest Author in the Disability News, Health category

Recently, Northwestern Medicine researchers discovered a mutated gene that causes the breakdown in the recycling system for cells in the brain and spinal cord that causes ALS (amyotrophic lateral sclerosis, commonly called Lou Gehrig’s disease). Now they have done it again, finding yet a second gene that may help lead to treatments for those living with the disease.

Patients with Lou Gehrig’s disease have proteins that build up abnormally in the motor neurons of the spinal cord and cortical and hippocampal neurons of the brain. In a healthy system, there is a recycling process that removes and replaces damaged proteins. Just a few months ago, the researchers found that the mutated gene ubilquillin2 was a problem, and the new research finds that another gene, sequestosome1, is also at fault. These two broken pathways cause the abnormal buildup of damaged proteins and the degeneration of the neurons in patients with ALS.

“Now that we have two bad players, it shines more light on this broken pathway,” says Dr. Teepu Siddique, a professor at the Davee Department of Neurology and Clinical Neurosciences at Northwestern’s Feinberg School of Medicine. “This gives us a clear target to develop drug therapies to try to fix this problem. It strengthens our belief that this broken system is at the heart of ALS.”

While this is great news for those with Lou Gehrig’s, it also may have a positive impact on treating other neurodegenerative diseases characterized by damaged proteins, such as Alzheimer’s disease, frontotemporal dementia, and Parkinson’s disease.

Source:
dddmag.com/Lou-Gehrig-Culprit-Found112311.aspx

Image source:
alsn.mda.org