Researchers ID Cellular Defect Common to Familial & Sporadic Forms of Lou Gehrig’s Disease (ALS); Nuclear Accumulation of CHMP7 Protein Precedes and Is Associated with Usual ALS Pathology; Treatment with Antisense Oligo Versus CHMP7 May Be Effective

Amyotrophic lateral sclerosis (ALS) (Lou Gehrig’s disease) is a rapidly progressive and fatal degenerative disease affecting the nerve cells in the brain and spinal cord responsible for controlling voluntary muscle movement. “Sporadic” or non-inherited ALS, accounts for roughly 90% percent of cases, and 10% of cases are due to known genetic mutations. By studying lab-grown neurons derived from skin or blood cells from 10 normal controls, from 8 individuals with an ALS-causing mutation, and from 17 people with non-inherited ALS, researchers have found a possible starting point for the dysfunction that causes the disease. The study, which was published online on July 28, 2021 in Science Translational Medicine, was funded in part by the National Institute for Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health. The article is titled “Nuclear Accumulation of CHMP7 Initiates Nuclear Pore Complex Injury and Subsequent TDP-43 Dysfunction in Sporadic and Familial ALS.”

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