Mitochondrial Dna Mutation in Family With Leber's Hereditary Optic Neuropathy

A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy

“…2, 1991 of the five families examined. Identical mutation has been found in other Japanese families (Yoneda et al, 1989(Yoneda et al, , 1990Mashima et al, 1989). These findings may suggest that the nt 11778 mutation is highly prevalent in Japanese LHON, though more families should be tested.…”

“…Arginine is highly conserved among various species, being present in identical positions in the proteins (Bibb et al, 1981;Anderson et al, 1982). The same mutation detected as the SfaNI site polymorphism has been identified in Japanese LHON families (Yoneda et al, 1989(Yoneda et al, , 1990Hotta et al, 1989;Mashima et al, 1989).…”

Molecular and Genetic Analyses of Two Patients with Pearson's Marrow-Pancreas Syndrome

“…In recent studies, several mutations of mtDNA associated with neuromuscular disorders have been reported. Deleted mtDNA was identified in patients with CPEO or KSS, whereas several point mutations of mtDNA were reported in patients with MELAS (16,20,21), MERRF (22,23), or Leber's hereditary optic neuropathy (24,25). In the present study, we analyzed both the deletions and the point mutations of mtDNA from two patients with Pearson's syndrome.…”

Point mutations in mitochondrial DNA of patients with alcoholic cardiomyopathy

“…11 The presence of point mutations and deletions in the mtDNA is associated with various diseases, including mitochondrial encephalomyopathy and cardiomyopathy. [12][13][14][15][16][17][18][19] Our objective was to investigate whether ACM patients carried abnormalities in their mtDNA. We therefore analyzed the entire mtDNA sequences in patients with ACM and compared the findings with those of controls.…”