Publications by authors named "Baptiste Ropert"
The identification of a point mutation (p.Ser59Leu) in the CHCHD10 gene was the first genetic evidence that mitochondrial dysfunction can trigger motor neuron disease. Since then, we have shown that this mutation leads to the disorganization of the MItochondrial contact site and Cristae Organizing System (MICOS) complex that maintains the mitochondrial cristae structure.
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- * Less recognized are neurodegenerative diseases linked to DNA repair deficiencies, such as Cockayne and Werner Syndromes, which lead to premature aging and neurological decline.
- * The review focuses on the similarities between neurodegeneration due to proteopathy and DNA repair defects, emphasizing the role of mitochondria and the utility of nematodes as a research model for studying these processes.
CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the Stomatin-Like Protein 2 and participates in the stability of the prohibitin complex in the inner mitochondrial membrane. By using patient fibroblasts and mouse models expressing the same CHCHD10 variant (p.
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- Recent research identified the CHCHD10 gene's role in mitochondrial dysfunction, linked to motor neuron degeneration, especially in conditions like ALS and frontotemporal dementia.
- A study highlighted a specific mutation (p.Ser59Leu) in the CHCHD10 gene leading to symptoms in mice that resembled those seen in affected patients, primarily involving early-onset mitochondrial cardiomyopathy and motor neuron degeneration.
- The study found that the mutation impairs cellular processes in muscle and motor neurons, showing sensitivity to stress and leading to significant deterioration before neurons are lost, indicating a gradual progression of disease pathology.