Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies

Song-Donglin; Zhang-Yingqian; Shi-Jin; Lu-Qiang; Chen-Jinwen; Zhang-Hong; Zhang-Weiqing; Wang-Heng; Cai-Qing

Chinese Medical Journal (English Edition) 114(12): 1273-1275


ISSN/ISBN: 0366-6999
Accession: 011162706

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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 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. Conclusion: 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.