Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria.

A recent preprint abstract discusses the findings of a study on the effects of a specific gene mutation on mitochondrial function in muscle tissue. The researchers used skeletal muscle myoblasts from mice with the gene mutation to create an immortalized cellular disease model. They found that the myotubes derived from these cells showed disruptions in the desmin cytoskeleton and myofibrillar irregularities. Additionally, the mitochondria from these cells exhibited a reduced proton leak and decreased levels of ADP/ATP translocases, suggesting a potential early step in the development of secondary mitochondriopathy. It is important to note that this preprint has not yet undergone peer review. [Extracted from the article]