Mitochondrial DNA mutation analysis in patients with mitochondrial encephalomyopathy / 医学研究生学报

ABSTRACT

Objective:To examine mitochondrial DNA mutations in mitochondrial encephalomyopathy.Methods:Three cases of mitochondrial encephalomyopathy were examined by HE staining,histochemical staining methods and electron microscopy.The mutations in mitochondrial genome were studied by polymerase chain reaction /restriction enzyme digestion. Results: The three cases were diagnosed as mitochondrial encephalomyopathy.The examinations revealed that patient 1 and 2 had a heteroplasmic A3243G mutation in tRNA~(leu) gene,and patient 3 had a heteroplasmic A8344G mutation in tRNA~(lys) gene.Conclusion:tRNA gene mutations of mtDNA might be one of the etiologies of mitochondrial encephalomyopathy.