title: Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
abstract: OBJECTIVE
  To study the relation between point mutations at nt3243 and nt8344 of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies and phenotypes.
  
  
  METHODS
  DNA was extracted from muscle specimens from 5 patients with mitochondrial encephalomyopathies and and amplified by PCR method, using corresponding oligonucleotide primers. DNA fragments were digested with restriction enzymes Bgl I and Apa I, then the digested DNA fragments were analyzed with an electrophoresis method.
  
  
  RESULTS
  The point mutation at nt3243 of mtDNA was found in 2 patients, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) and another with myoclonic epilepsy with ragged red fibers (MERRF). The point mutation at nt8344 was found in 2 patients with MERRF, including the one with point mutation at nt3243.
  
  
  CONCLUSIONS
  The point mutation of DNA at nt3243 correlated with MELAS and nt8344 correlated with MERRF. In addition, the detection of point mutations at both nt3243 and nt8344 in a patient with MERRF shows the association of mutation with diversity in clinical manifestations of mitochondrial encephalomyopathies.
authors.affiliation: Department of Neurology, General Air Force Hospital, Beijing 100036, China. sj.sj@263.net
authors.forename: D
authors.initials: D
authors.lastname: Song
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Shi
authors.forename: Q
authors.initials: Q
authors.lastname: Lü
authors.forename: J
authors.initials: J
authors.lastname: Chen
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: W
authors.initials: W
authors.lastname: Zhang
authors.forename: H
authors.initials: H
authors.lastname: Wang
authors.forename: Q
authors.initials: Q
authors.lastname: Cai
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D004247:DNA / Q000235:genetics / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial; D004247:DNA; D015252:Deoxyribonucleases, Type II Site-Specific; C018492:GCCNNNNNGGC-specific type II deoxyribonucleases; C038485:GGGCCC-specific type II deoxyribonucleases