Normal respiratory chain function in patients with low-tension glaucoma.
OBJECTIVE
To test the hypothesis that low-tension glaucoma has a pathogenesis similar to Leber's hereditary optic neuropathy and results from a defect in the mitochondrial respiratory chain.


METHODS
Mitochondrial fractions were prepared from skeletal muscle samples collected from eight subjects with low-tension glaucoma. Their oxidative metabolism was compared with that of age- and sex-matched controls. Skeletal muscle DNA prepared from the subjects with glaucoma was also screened for the 3,460, 11,778, and 14,484 mitochondrial DNA mutations that are associated with Leber's hereditary optic neuropathy.


RESULTS
No subject with low-tension glaucoma had a defect in respiratory chain activity or one of three mitochondrial DNA mutations that are commonly associated with Leber's hereditary optic neuropathy.


CONCLUSIONS
Although these results do not exclude the possibility that low-tension glaucoma is caused by an organ-specific defect of mitochondrial function, we have excluded a systemic defect of the mitochondrial respiratory chain.
Brierley
E J
EJ
Division of Clinical Neuroscience, University of Newcastle upon Tyne, England.
Griffiths
P G
PG
Weber
K
K
Johnson
M A
MA
Turnbull
D M
DM
D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000032:analysis; D004579:Electron Transport / Q000502:physiology; D005260:Female; D005902:Glaucoma, Open-Angle / Q000209:etiology / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000378:metabolism*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000378:metabolism*; D010101:Oxygen Consumption; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D017931:DNA Primers; D004272:DNA, Mitochondrial