PMID: 2112427Jun 15, 1990Paper

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

Cell
J M ShoffnerD C Wallace

Abstract

An A to G transition mutation at nucleotide pair 8344 in human mitochondrial DNA (mtDNA) has been identified as the cause of MERRF. The mutation alters the T psi C loop of the tRNA(Lys) gene and creates a CviJI restriction site, providing a simple molecular diagnostic test for the disease. This mutation was present in three independent MERRF pedigrees and absent in 75 controls, altered a conserved nucleotide, and was heteroplasmic. All MERRF patients and their less-affected maternal relatives had between 2% and 27% wild-type mtDNAs and showed an age-related association between genotype and phenotype. This suggests that a small percentage of normal mtDNAs has a large protective effect on phenotype. This mutation provides molecular confirmation that some forms of epilepsy are the result of deficiencies in mitochondrial energy production.

References

Feb 11, 1990·Nucleic Acids Research·S JohansenT Johansen
Jun 15, 1990·American Journal of Ophthalmology·M T LottD C Wallace
May 1, 1989·Somatic Cell and Molecular Genetics·N Howell, A Lee
Oct 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·J M ShoffnerD C Wallace
Mar 1, 1988·Somatic Cell and Molecular Genetics·N Howell, M S Nalty
Jul 20, 1988·Journal of Molecular Biology·H T JacobsA Farquharson
Dec 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·M A InnisM A Brow
Mar 1, 1988·Proceedings of the National Academy of Sciences of the United States of America·C J FarrC J Marshall
Mar 1, 1985·Annals of Neurology·H S RosingK Weidenheim
Apr 9, 1981·Nature·S AndersonI G Young
Oct 1, 1981·Cell·M J BibbD A Clayton

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Citations

Dec 1, 1996·Prenatal Diagnosis·J Poulton, D R Marchington
Apr 15, 1996·Journal of Neuroscience Research·S KöselM B Graeber
Dec 7, 2000·Mental Retardation and Developmental Disabilities Research Reviews·C E Stafstrom, B L Tempel
Sep 1, 1991·Annals of Neurology·J M ShoffnerD C Wallace
Apr 1, 1992·Annals of Neurology·E CiafaloniC Garcia
Dec 1, 1993·Annals of Neurology·F M SantorelliS DiMauro
Jan 1, 1995·Annals of Neurology·W JohnstonE A Shoubridge
Mar 1, 1996·Annals of Neurology·S RahmanD R Thorburn
Aug 1, 1996·Annals of Neurology·P KaufmannE A Schon
Oct 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·C G Kurland
Nov 1, 1992·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·J Poulton
Dec 1, 1996·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·L I Grossman, E A Shoubridge
May 6, 1998·BioFactors·S DiMauro
Jan 1, 1993·Movement Disorders : Official Journal of the Movement Disorder Society·M S SandyD A Di Monte
Sep 13, 2001·Mental Retardation and Developmental Disabilities Research Reviews·D C Wallace
Aug 1, 1994·Muscle & Nerve·P A CalabresiR C Griggs
Jan 1, 1995·Muscle & Nerve. Supplement·N Fukuhara
Jan 1, 1995·Muscle & Nerve. Supplement·C T MoraesS DiMauro
Jan 1, 1995·Muscle & Nerve. Supplement·J PoultonL Bindoff

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