NIH R01 · 2024
CHCHD10 Frontotemporal Dementia, Molecular Mechanisms and Therapeutic Strategies
Coiled-helix-coiled-helix domain containing protein 10 (CHCHD10, D10) is the first mitochondrial protein to be associated with familial frontotemporal dementia and amyotrophic lateral sclerosis (ALS). The normal function of D10 remains unknown, but to date several pathogenic D10 mutations have been reported. Our most recent studies have demonstrated that mutant D10 forms fibrillar amyloid aggregates that could participate in the pathogenesis of D10 frontotemporal dementia and may even contribute to Alzheimer’s disease. We propose that accumulation of mutant D10 amyloid aggregates disrupt mitochondrial proteostasis and activate mitochondrial integrated stress response (mtISR), leading to…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.