Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

TitleRapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).
Publication TypeJournal Article
Year of Publication1991
AuthorsZeviani, M, Amati, P, Bresolin, N, Antozzi, C, Piccolo, G, Toscano, A, DiDonato, S
JournalAm J Hum Genet
Volume48
Issue2
Pagination203-11
Date Published1991 Feb
ISSN0002-9297
KeywordsBase Sequence, DNA, Mitochondrial, Epilepsies, Myoclonic, Humans, Lysine, Mitochondria, Muscle, Molecular Sequence Data, Muscles, Mutation, Pedigree, Polymerase Chain Reaction, RNA, Transfer, Lys, Syndrome
Abstract

We devised a rapid PCR-based method to screen for an A----G transition at nucleotide 8344 of the human mitochondrial tRNA(Lys) gene, which was recently reported, by Shoffner and co-workers, to be associated with myoclonus epilepsy and ragged-red fibers (MERRF), a maternally transmitted mitochondrial encephalomyopathy (Shoffner et al. 1990). We confirmed this association in five of seven Italian MERRF pedigrees. The mutation was specific for the MERRF trait, because it was never found in mtDNA of non-MERRF individuals, including 14 normal and 110 diseased controls. Our study corroborates the idea that the A----G(8344) mutation is the most frequent and widespread genetic cause of MERRF.

Alternate JournalAm. J. Hum. Genet.
Citation Key1452
PubMed ID1899320
PubMed Central IDPMC1683006