Despite ubiquitous CHCHD10 expression, the mutation causes fatal cardiomyopathy by 14 months, muscle defects by 3 months, but only moderate motor neuron loss at end-stage disease. The molecular basis for this differential tissue vulnerability is unknown but could reveal therapeutic targets. Gap type: unexplained_observation Source paper: Mitochondrial defect in muscle precedes neuromuscular junction degeneration and motor neuron death in CHCHD10 (2019, Acta neuropathologica, PMID:30874923)
Landscape Summary: What determines the tissue-specific vulnerability pattern in CHCHD10 mutations (heart > muscle > neurons)? is a 0.78 priority gap in neurodegeneration. It has 0 linked hypotheses with average composite score 0.000. Status: open.
Colonna, Sevlever, et al. (TREM2 biology)
What determines the tissue-specific vulnerability pattern in CHCHD10 mutations (heart > muscle > neurons)? — INVOKE-2 (completed)
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