[HTML][HTML] Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy

G Hofhaus, DR Johns, O Hurko, G Attardi… - Journal of Biological …, 1996 - ASBMB
Mitochondrial DNA from two genetically unrelated patients carrying the mutation at position
11778 that causes Leber's hereditary optic neuropathy has been transferred with
mitochondria into human mtDNA-less ρ 0 206 cells. As analyzed in several
transmitochondrial cell lines thus obtained, the mutation, which is in the gene encoding
subunit ND4 of the respiratory chain NADH dehydrogenase (ND), did not affect the
synthesis, size, or stability of ND4, nor its incorporation into the enzyme complex. However …