TY - JOUR
T1 - Phenotypical expression and molecular genetics of the nt-3243 mutation in the mitochondrial tRNA(LEU(UUR)) gene
AU - Petruzzella, V.
AU - Hirano, M.
AU - Moraes, C. T.
AU - Dimauro, S.
AU - Bonilla, E.
AU - Schon, E. A.
PY - 1995/12/1
Y1 - 1995/12/1
N2 - The morphological and genetic characteristics of isolated muscle fibers from patients harboring an A->G mutation at nt-3243 in the mitochondrial tRNA(Leu(UUR)) gene have been analysed. This mutation is associated with two distinct disorders, namely, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS3243) and progressive external ophthalmoplegia (PEO3243). Morphologically, the main distinctive feature in PEO3243 muscle sections is the presence of a subset of ragged-red fibers (RRF) with no cytochrome c oxidase activity, a feature which is present only rarely in MELAS3243 muscle. By single fiber PCR analysis, we have found that the two disorders exhibit a distinctive pattern in muscle of the distribution of the nt-3243 mutation. Furthermore, we have provided evidence that the focal concentration of the nt-3243 mutation in single muscle fibers induces impairment of respiratory chain function.
AB - The morphological and genetic characteristics of isolated muscle fibers from patients harboring an A->G mutation at nt-3243 in the mitochondrial tRNA(Leu(UUR)) gene have been analysed. This mutation is associated with two distinct disorders, namely, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS3243) and progressive external ophthalmoplegia (PEO3243). Morphologically, the main distinctive feature in PEO3243 muscle sections is the presence of a subset of ragged-red fibers (RRF) with no cytochrome c oxidase activity, a feature which is present only rarely in MELAS3243 muscle. By single fiber PCR analysis, we have found that the two disorders exhibit a distinctive pattern in muscle of the distribution of the nt-3243 mutation. Furthermore, we have provided evidence that the focal concentration of the nt-3243 mutation in single muscle fibers induces impairment of respiratory chain function.
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M3 - Article
AN - SCOPUS:0029419448
VL - 20
SP - 177
EP - 183
JO - Bulletin of Molecular Biology and Medicine
JF - Bulletin of Molecular Biology and Medicine
SN - 0391-481X
IS - 3-4
ER -