Topic: complex I deficiency

Primary mitochondrial diseases are caused by mutations in genes required for mitochondrial function. The primary mitochondrial disease complex I deficiency results from loss-of-function mutations in subunits of mitochondrial respiratory complex 1 and is the most common cause of childhood mitochondrial disease. Complex I deficiency causes severe neurological deficits in patients, but we have little understanding of how individual subtypes of neurons are affected and the underlying mechanisms.We used knockdown of the complex I subunit ND-75 in Drosophila (the homolog of NDUFS1) to investigate th

Primary mitochondrial diseases are caused by mutations in genes that perturb mitochondrial function and frequently affect the nervous system in patients. Complex I deficiency is the most common childhood mitochondrial disease and is caused by mutations in genes encoding complex I structural or assembly components. In patients, mutations in the complex I subunit NDUFS1 typically cause severe and rapidly progressive leukoencephalopathy and death during childhood. We developed a Drosophila model of complex I deficiency using knockdown of the NDUFS1 homolog ND-75 in neurons (ND-75 KD). ND-75 KD fl