Mitochondrial Abnormalities Observed In Early Forms Of ALS, Study Finds

ALS News Today (5/28, Wexler) reports a study found that “genetic mutations associated with amyotrophic lateral sclerosis (ALS) lead to problems with the function and transport of mitochondria, cellular structures needed for energy production, early in the disease course, before abnormal protein clumps are formed.” In the study, researchers “engineered human stem cells to contain various types of ALS-causing mutations in the genes FUS or TARDBP, which are mutated in up to 8% of familial ALS cases and about 2% of sporadic ALS cases. They then primed the stem cells to mature into motor neurons and interneurons, nerve cells that are particularly resistant to neurodegeneration in ALS, and performed detailed analyses on the mature cells.” They observed that “motor neurons carrying ALS-associated mutations showed widespread changes in their transcriptional activity. In other words, there was dysregulation in which genes were turned on or off.” Researchers concluded, “In the data we obtained, we identified a common disease signature across all ALS-causing mutations, which was unique to motor neurons.” The study was published in Nature Communications.