Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: a new approach to the study of mitochondrial myopathies.
We have studied the usefulness of anti-DNA antibodies to detect ragged-red fibers (RRF) in muscle biopsies from patients with mitochondrial myopathies. We have found that these antibodies are excellent probes for the localization of mitochondrial DNA (mtDNA) in RRF, and for the diagnosis of depletion of mtDNA in a newly described group of fatal myopathies of infancy.
Andreetta
F
F
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY 10032.
Tritschler
H J
HJ
Schon
E A
EA
DiMauro
S
S
Bonilla
E
E
D000906:Antibodies; D000911:Antibodies, Monoclonal; D001706:Biopsy; D004272:DNA, Mitochondrial / Q000032:analysis* / Q000235:genetics; D003576:Electron Transport Complex IV / Q000032:analysis; D006801:Humans; D007150:Immunohistochemistry; D007625:Kearns-Sayre Syndrome / Q000235:genetics / Q000473:pathology*; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology*; D012016:Reference Values; D013385:Succinate Dehydrogenase / Q000032:analysis
D000906:Antibodies; D000911:Antibodies, Monoclonal; D004272:DNA, Mitochondrial; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV