Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study.
Antibodies against subunits II and IV of cytochrome c oxidase (COX) and against complex III of the respiratory chain were used to study the expression of these proteins in the cerebellum, spinal cord, and other regions of the central nervous system in an autoptic case of Menkes' kinky hair disease (MKHD). We found a reduced expression of COX subunits in all examined areas whereas staining for complex III appeared normal. Immunostaining was altered in morphologically well-preserved neurons, suggesting that COX deficiency may have a pathogenetic role in the neuronal degeneration of MKHD.
Sparaco
M
M
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY 10032.
Hirano
A
A
Hirano
M
M
DiMauro
S
S
Bonilla
E
E
D000911:Antibodies, Monoclonal / Q000276:immunology; D001921:Brain / Q000473:pathology; D002490:Central Nervous System / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000201:enzymology / Q000473:pathology*; D009410:Nerve Degeneration / Q000502:physiology; D013116:Spinal Cord / Q000473:pathology
D000911:Antibodies, Monoclonal