[Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy].
OBJECTIVE
To examine mitochondrial DNA mutations in mitochondrial myopathy.


METHODS
Three suspected cases of mitochondrial myopathy were examined by HE staining, histochemical staining methods and electron microscopy. The mutations in all 22 tRNA genes of mitochondrial genome were screened by polymerase chain reaction-single strand conformation polymorphism and DNA sequencing.


RESULTS
The three cases were diagnosed as mitochondrial myopathy. The examinations revealed that patient 1 had a homoplasmic A1627G mutation in tRNA-Val gene, and patient 2 had a heteroplasmic A1627G/A mutation in tRNA-Val gene, and patient 3 had two mutationsuone was homoplasmic T5554C mutation in tRNA-Trp gene, the other was heteroplasmic A10412C/A mutation in tRNA-Arg gene.


CONCLUSIONS
tRNA genes mutations of mtDNA might be one of the etiologies of mitochondrial myopathy.
Zhang
Xiao-ai
XA
Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, PR China.
Wu
Hua-cheng
HC
Zhang
Bing-feng
BF
Yu
Wen
W
Fan
Qi-shi
QS
D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D017240:Mitochondrial Myopathies / Q000235:genetics* / Q000473:pathology; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012366:RNA, Transfer, Val / Q000235:genetics; D055815:Young Adult
D004272:DNA, Mitochondrial; D012366:RNA, Transfer, Val