Association of the LHON 13,708 and 15,257 mitochondrial DNA mutations with neurodegenerative diseases distinct from LHON.
300 patients suffering from neurodegenerative diseases distinct from Leber hereditary optic neuropathy (LHON) were screened for the presence of mitochondrial DNA mutations. We report on nine patients, eight female and one male, who all harboured mutations at positions 13,708 and 15,257 of the mitochondrial DNA. Both mutations have previously been claimed to be associated with LHON. Based on our results, these mutations occur in a number of different neurodegenerative diseases and therefore cannot be regarded as "LHON" mutations.
Rödel
G
G
Institut für Genetik, Technische Universität Dresden, Germany.
Laubhan
R
R
Scheuerle
A
A
Skowronek
P
P
Haferkamp
O
O
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D017354:Point Mutation
D004272:DNA, Mitochondrial