Point mutations of muscle mitochondrial DNA from patients with mitochondrial encephalomyopathies

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 encephalomyopathies and amplified by PCR method, fragments were digested with restriction enzymes Bgl I analyzed with an electrophoresis method. specimens from 5 patients with mitochondrial using corresponding oligonucleotide primers. DNA 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.