Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy.
- Author:
Xiao-ai ZHANG
1
;
Hua-cheng WU
;
Bing-feng ZHANG
;
Wen YU
;
Qi-shi FAN
Author Information
- Publication Type:Case Reports
- MeSH: Adult; DNA Mutational Analysis; DNA, Mitochondrial; chemistry; genetics; Female; Humans; Male; Microscopy, Electron, Transmission; Mitochondrial Myopathies; genetics; pathology; Muscle Fibers, Skeletal; metabolism; pathology; ultrastructure; Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; RNA, Transfer, Val; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2005;22(1):18-21
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo examine mitochondrial DNA mutations in mitochondrial myopathy.
METHODSThree 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.
RESULTSThe 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.
CONCLUSIONtRNA genes mutations of mtDNA might be one of the etiologies of mitochondrial myopathy.
