Health knowledge and news provided by doctors.

Second gene discovered as culprit for Lou Gehrig's disease

Kathleen Blanchard's picture
Northwestern University researchers find a second faulty gene for Lou Gehrig's.

ALS or Lou Gehrig's disease was recently found by Northwestern University researchers to stem from faulty protein recycling that fails to repair damaged neurons. Now the same researchers have discovered a second mutated gene responsible for the poorly understood disease in what is another major breakthrough.

The gene is linked to the same faulty recycling pathway discovered in all cases of Lou Gehrig's disease that causes protein to be broken down and unable to repair; in turn leading to motor neuron death in the brain and spinal cord.

Senior author Teepu Siddique, M.D., the Les Turner ALS Foundation/Herbert C. Wenske Professor of the Davee Department of Neurology and Clinical Neurosciences at Northwestern's Feinberg School and a neurologist at Northwestern Memorial Hospital says "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."

Follow eMaxHealth on YouTube, Twitter and Facebook.
Please, click to subscribe to our Youtube Channel to be notified about upcoming health and food tips.

The second gene culprit for Lou Gehrig’s disease is sequestosome1. The first mutated gene, discovered this year, is ubiquilin2.

In the new study, the researchers discovered sequestosome1 genetic mutations in 546 ALS patients: 340 patients had an inherited or familial form of the disease, and 206 had a sporadic form of Lou Gehrig’s disease, which accounts for 90 percent of cases.

Researchers have found 10 genes responsible for inherited forms of ALS, including SOD1 and ALSIN.

The research finding adds to understanding about how Lou Gehrig’s disease causes brain cells to degenerate, making it possible to find targeted drug therapy to treat ALS.