[The study of point mutation of muscular mitochondrial DNA from patients with mitochondrial encephalomyopathies].
OBJECTIVE
To study the relation between the point mutation at nt3243 and nt8344 of muscular mitochondrial DNA from patient with mitochondrial encephalomyopathies and phenotypes.


METHODS
The total DNA was extracted from muscle specimens from 5 patients with mitochondrial encephalomypathies and amplified by PCR method using corresponding oligonucleotide primers. The DNA fragments were digested with the restriction enzyme Bgl I and Apa I, then the digested DNA fragments were analyzed with electrophoresed method.


RESULTS
The point mutation at nt3243 of mtDNA was found in 2 patients, 1 with MELAS and another with MERRF. The point mutation at nt8344 was found in 2 patients with MERRF, including the one with point mutation at nt3243.


CONCLUSIONS
There was a correlation of the point mutation of DNA at nt3243 with MELAS,and at nt8344 with MERRF. In addition, The detection of point matation at both nt3243 and nt8344 in patient with MERRF shows the association of matation with diversity in clinical manifestion of mitichondrial encephalomypathies.
Song
D
D
Department of Neurology, Air Force General Hospital, Beijing 100036, China.
Zhang
Y
Y
Shi
J
J
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D009132:Muscles / Q000503:physiopathology; D010641:Phenotype; D017354:Point Mutation
D004272:DNA, Mitochondrial