Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Y Ji, J Zhang, Y Lu, Q Yi, M Chen, S Xie, X Mao… - Journal of Biological …, 2020 - jbc.org
Leber's hereditary optic neuropathy (LHON) is a maternal inheritance of eye disease
because of the mitochondrial DNA (mtDNA) mutations. We previously discovered a 3866T>
C mutation within the gene for the ND1 subunit of complex I as possibly amplifying disease
progression for patients bearing the disease-causing 11778G> A mutation within the gene
for the ND4 subunit of complex I. However, whether and how the ND1 mutation exacerbates
the ND4 mutation were unknown. In this report, we showed that four Chinese families …
because of the mitochondrial DNA (mtDNA) mutations. We previously discovered a 3866T>
C mutation within the gene for the ND1 subunit of complex I as possibly amplifying disease
progression for patients bearing the disease-causing 11778G> A mutation within the gene
for the ND4 subunit of complex I. However, whether and how the ND1 mutation exacerbates
the ND4 mutation were unknown. In this report, we showed that four Chinese families …
