Uniform tissue distribution of tRNA Lys mutation in mitochondrial DNA in MERRF patients

• DOI: 10.1212/wnl.43.6.1198
• Publication Date: 2012-05-13T13:08:07Z
• Authors: Y. Tanno; M. Yoneda; K. Tanaka; R. Kondo; I. Hozumi; K. Wakabayashi; M. Yamada; N. Fukuhara; F. Ikuta; S. Tsuji
• Keywords: Myoclonic epilepsy; Human mitochondrial genetics

We documented the presence of a point mutation in tRNA^Lys gene mitochondrial DNA (mtDNA) various postmortem tissues from two patients with myoclonus epilepsy associated ragged-red fibers (MERRF). The percentages mutant mtDNA were similar (93 to 99%) both clinically affected and unaffected tissues, suggesting that preferential clinical involvement certain MERRF is based not only on variation distribution mtDNA, but also other factors such as differences threshold CNS regions organs.