Biochemical Changes in ALS Cells Linked to Genetic Mutation

Published on May 11, 2023

A genetic mutation in amyotrophic lateral sclerosis (ALS) fibroblasts has been found to cause significant changes in the cells’ metabolic profile. The study identifies a specific truncation of the TDP43 protein as the culprit behind these alterations. Comparing the cells with the mutation to healthy cells, researchers observed differences in levels of pyruvate and intermediates in the TCA cycle, which is responsible for generating energy in cells. The findings suggest that this genetic mutation disrupts cellular metabolism, potentially contributing to the development of ALS. Understanding these biochemical changes at a cellular level could lead to new strategies for diagnosing and treating the disease. For more information, explore the research article linked below.

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