Researchers Discover Underlying Cause of Lou Gehrig’s Disease

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Researchers report they’ve discovered a common cause of all forms of the fatal neurological disorder amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease. The findings, published in Nature, point to a possible new avenue for treatment.

The study identifies the malfunctioning of protein recycling systems in the neurons of the brain and spinal cord as the underlying cause of all types of ALS, whether it’s hereditary, sporadic or the type that targets the brain.

When this system fails, neurons are unable to recycle the protein building blocks that are critical to their functioning. Eventually, brain and spinal cord neurons become damaged and lose their ability to carry nerve signals to the body’s muscles. That results in paralysis, leaving patients unable to move, speak, swallow or breathe.

A team of 23 researchers, including senior author Dr. Teepu Siddique of the Davee Department of Neurology and Clinical Neurosciences at Northwestern’s Feinberg School of Medicine, discovered that the protein ubiquilin 2 plays a key role in this recycling system. Ubiquilin 2 is responsible for repairing or clearing other proteins as they become damaged in spinal cord and brain cells; when it malfunctions, as it does in ALS patients, the damaged proteins start to clutter cells, causing them to degenerate.

“This is the first time we could connect [ALS] to a clear-cut biomedical mechanism,” Siddique said in a statement. “It has really made the direction we have to take very clear and sharp. We can now test for drugs that would regulate this protein pathway or optimize it, so it functions as it should in a normal state.”

About 30,000 Americans currently have ALS, and 50% of patients die within three years of diagnosis. There is currently no clear treatment for the paralysis.

Reported the Chicago Tribune:

Amelie Gubitz, a research program director at the National Institute of Neurological Disorders and Stroke, said the Northwestern study was a big step forward.

“You need to understand at the cellular level what is going wrong,” Gubitz said. “Then you can begin to design drugs.”

Researchers think the new findings may also contribute to the study of other neurodegenerative diseases like dementia and Alzheimer’s.