Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers

Muscle & Nerve
S MitaM Uchino

Abstract

We examined two muscle biopsy specimens from a proband and her mother with myoclonus epilepsy with ragged-red fibers (MERRF), both obtained at an interval of about 10 years, using histochemistry, in situ hybridization, and single-fiber polymerase chain reaction. Total (wild-type and mutant) mitochondrial DNAs (mtDNAs) were greatly increased in ragged-red fibers (RRF) over non-RRF in all muscle specimens analyzed. The proportion of mutant mtDNA was also significantly higher in RRF than in non-RRF. By comparing the first and second muscle biopsied specimens in each patient, we found that while the proportion of RRF, cytochrome coxidase deficient fibers, and mutant DNA in muscle changed over a 10-year period, the proportion of wild-type and mutant mtDNAs in RRF and in non-RRF was similar between the two specimens. These results suggest that the ratio of wild-type to mutant mtDNAs in RRF and non-RRF in MERRF is at a steady state level in each muscle fiber, without replicative advantage of mutant mtDNA.

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Citations

Jun 13, 2009·Pediatric Neurology·Shigemi KimuraHirofumi Kosuge
Feb 15, 2005·Neurobiology of Aging·Antonella CormioPalmiro Cantatore
Apr 25, 2012·PloS One·Lakshmi Narayanan LakshmananRudiyanto Gunawan
Oct 23, 2014·Arquivos de neuro-psiquiatria·Paulo José LorenzoniLineu Cesar Werneck
Jan 22, 2010·The American Journal of Surgical Pathology·Akimitsu KobayashiYutaka Yamaguchi
Feb 7, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·J WanagatJ M Aiken
Dec 16, 1998·Current Opinion in Neurology·E A Shoubridge
Apr 26, 2003·Journal of Theoretical Biology·Graham J CappsPatrick F Chinnery

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