Mitochondrial DNA mutation analysis in patients with mitochondrial myopathy / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To examine mitochondrial DNA mutations in mitochondrial myopathy.</p><p><b>METHODS</b>Three suspected cases of mitochondrial myopathy were examined by HE staining, histochemical staining methods and electron microscopy. The mutations in all 22 tRNA genes of mitochondrial genome were screened by polymerase chain reaction-single strand conformation polymorphism and DNA sequencing.</p><p><b>RESULTS</b>The three cases were diagnosed as mitochondrial myopathy. The examinations revealed that patient 1 had a homoplasmic A1627G mutation in tRNA-Val gene, and patient 2 had a heteroplasmic A1627G/A mutation in tRNA-Val gene, and patient 3 had two mutationsuone was homoplasmic T5554C mutation in tRNA-Trp gene, the other was heteroplasmic A10412C/A mutation in tRNA-Arg gene.</p><p><b>CONCLUSION</b>tRNA genes mutations of mtDNA might be one of the etiologies of mitochondrial myopathy.</p>