PMID: 8580730Nov 1, 1995Paper

The 8,344 mutation in mitochondrial DNA: a comparison between the proportion of mutant DNA and clinico-pathologic findings

Neuromuscular Disorders : NMD
M OzawaI Nonaka

Abstract

Ten patients, two men and eight women with mitochondrial encephalomyopathy, had an A-G mutation at nucleotide pair 8,344 in the mitochondrial DNA, the most common genetic defect in myoclonus epilepsy with ragged-red fibers (MERRF). Eight patients had the clinical and pathologic characteristics of MERRF including myoclonus, seizures, cerebellar ataxia and myopathy with ragged-red fibers. Two patients had atypical symptoms such as early onset of fatal cardiac failure and late onset of rapid mental deterioration, respectively. The striking feature in our patients with the 8,344 mutation cardiac involvement and two developed progressive heart failure. In the typical MERRF patients, the proportion of mutant mitochondrial DNA in their skeletal muscles, quantified by a single strand conformation polymorphism analysis, was above 85%. However, there was no significant correlation between clinical severity, histopathological findings and the proportion of mutant mtDNA in muscle biopsy samples, suggesting that non-ragged-red fibers play an important role in the phenotype expression of the mutants.

References

May 1, 1991·Annals of Neurology·S F BerkovicG Karpati
Dec 1, 1991·Journal of the Neurological Sciences·T MatsuokaI Nonaka
Dec 14, 1990·Biochemical and Biophysical Research Communications·P SeibelB Kadenbach

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Citations

Jul 23, 1998·Neuromuscular Disorders : NMD·A R MoslemiA Oldfors
Mar 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·F L Mastaglia, N G Laing
Mar 25, 1998·Journal of the Neurological Sciences·M B Graeber, U Müller
Feb 23, 2012·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Mario De la MataJosé A Sánchez-Alcázar
Jun 8, 2013·International Journal of Cardiology·Matthew G D BatesGráinne S Gorman
Oct 23, 2014·Arquivos de neuro-psiquiatria·Paulo José LorenzoniLineu Cesar Werneck
Aug 27, 2019·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·H L MooreG S Gorman
May 15, 2019·Biology·Jason DuranEric Adler
Jan 16, 2020·Paediatric Drugs·Gregory L Holmes
Feb 18, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Marina Villanueva-PazJosé A Sánchez-Alcázar

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