Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency - PubMed
4 hours ago
- #NDUFA5 variants
- #mitochondrial disease
- #complex I deficiency
- Bi-allelic variants in NDUFA5 cause mitochondrial complex I deficiency, leading to variable multisystem disease.
- Four individuals from three families showed complex I deficiency proven via multiple biochemical and proteomic methods.
- Transcriptomics and RT-PCR revealed aberrant mRNA expression in affected individuals.
- Zebrafish ndufa5 mutants exhibited developmental defects, locomotor deficits, and abnormal brain activity.
- The phenotype includes severe congenital heart defects, hematological abnormalities, and neurological issues consistent with Leigh syndrome.