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Mitochondrial defects and neuromuscular degeneration caused by altered expression of Drosophila Gdap1: implications for the Charcot-Marie-Tooth neuropathy. | LitMetric

AI Article Synopsis

  • The GDAP1 gene is linked to Charcot-Marie-Tooth (CMT) disease, a genetic disorder affecting peripheral nerves, and researchers have identified its true ortholog in fruit flies, which they named Gdap1.
  • By manipulating Gdap1 expression in specific tissues, the study found that changes in this gene lead to alterations in mitochondrial characteristics and resulting neuronal and muscular degeneration, which occurs independently of nerve involvement.
  • The findings indicate that while oxidative stress plays a role in neuromuscular degeneration, it is a consequence of mitochondrial dysfunction rather than a direct cause, enhancing the understanding of mitochondrial dynamics in CMT and informing future disease modeling.

Article Abstract

One of the genes involved in Charcot-Marie-Tooth (CMT) disease, an inherited peripheral neuropathy, is GDAP1. In this work, we show that there is a true ortholog of this gene in Drosophila, which we have named Gdap1. By up- and down-regulation of Gdap1 in a tissue-specific manner, we show that altering its levels of expression produces changes in mitochondrial size, morphology and distribution, and neuronal and muscular degeneration. Interestingly, muscular degeneration is tissue-autonomous and not dependent on innervation. Metabolic analyses of our experimental genotypes suggest that alterations in oxidative stress are not a primary cause of the neuromuscular degeneration but a long-term consequence of the underlying mitochondrial dysfunction. Our results contribute to a better understanding of the role of mitochondria in CMT disease and pave the way to generate clinically relevant disease models to study the relationship between mitochondrial dynamics and peripheral neurodegeneration.

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Source
http://dx.doi.org/10.1093/hmg/ddu416DOI Listing

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