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  • Title: Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies.
    Author: Song D, Zhang Y, Shi J, Lü Q, Chen J, Zhang H, Zhang W, Wang H, Cai Q.
    Journal: Chin Med J (Engl); 2001 Dec; 114(12):1273-5. PubMed ID: 11793851.
    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. 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.
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