Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers
Corresponding Author
Shuji Mita MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, JapanSearch for more papers by this authorMakoto Tokunaga MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorEiichiro Uyama MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorToshihide Kumamoto MD
Third Department of Internal Medicine, Oita Medical University, Hasama-machi, Oita 879-55, Japan
Search for more papers by this authorKazutoshi Uekawa MD
Department of Neurology, Kumamoto Minami Hospital, Matsubase Shimomashiki-Gun, Kumamoto 869-05, Japan
Search for more papers by this authorMakoto Uchino MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorCorresponding Author
Shuji Mita MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, JapanSearch for more papers by this authorMakoto Tokunaga MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorEiichiro Uyama MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorToshihide Kumamoto MD
Third Department of Internal Medicine, Oita Medical University, Hasama-machi, Oita 879-55, Japan
Search for more papers by this authorKazutoshi Uekawa MD
Department of Neurology, Kumamoto Minami Hospital, Matsubase Shimomashiki-Gun, Kumamoto 869-05, Japan
Search for more papers by this authorMakoto Uchino MD
Department of Neurology, Kumamoto University School of Medicine, 1-1-1 Honjo Kumamoto 860, Japan
Search for more papers by this authorAbstract
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 c oxidase 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. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21:490–497, 1998.
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