Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients
- 16 September 1991
- journal article
- case report
- Published by Elsevier BV in Biochemical and Biophysical Research Communications
- Vol. 179 (2), 880-885
- https://doi.org/10.1016/0006-291x(91)91900-w
Abstract
An A to G transition at nucleotide position 8,344 in tRNALys of mitochondrial DNA has been recently identified as a causative mutation of myoclonus epilepsy associated with ragged-red fibers (MERRF). To investigate if the degree of heteroplasmy of mitochondrial DNA is correlated with the severity of MERRF, we have developed a novel method for quantitation of the mutant mitochondrial DNA by polymerase chain reaction using a mismatched primer. With the method, populations of mutant mtDNAs from 5 cases of MERRF carrying the tRNALys mutation were analyzed. The tight linkage of the severity of symptoms and the degree of heteroplasmies is not necessarily observed for all cases, though there is a tendency that patients with less wild type mtDNAs show severer clinical symptoms and earlier onset.Keywords
Funding Information
- Ministry of Education, Culture, Sports, Science and Technology (11-A, 2-A)
- Ministry of Health, Labour and Welfare
- National Center of Neurology and Psychiatry
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