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Titolo:
Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy
Autore:
Iwanaga, R; Koga, Y; Aramaki, S; Kato, S; Kato, H;
Indirizzi:
Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Kurume, Fukuoka 8300011, Japan Kurume Univ Kurume Fukuoka Japan 8300011 , Kurume, Fukuoka 8300011, Japan Kurume Univ, Sch Med, Dept Pathol, Kurume, Fukuoka 8300011, Japan Kurume Univ Kurume Fukuoka Japan 8300011 , Kurume, Fukuoka 8300011, Japan
Titolo Testata:
ACTA NEUROPATHOLOGICA
fascicolo: 2, volume: 101, anno: 2001,
pagine: 179 - 184
SICI:
0001-6322(200102)101:2<179:IAIDOM>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
MATERNALLY INHERITED CARDIOMYOPATHY; LACTIC-ACIDOSIS; POINT MUTATION; EPISODES MELAS; HYPERTROPHIC CARDIOMYOPATHY; TRNA(LEU(UUR)) GENE; CLINICAL-FEATURES; DNA; MYOPATHY; ENCEPHALOPATHY;
Keywords:
tRNA(Leu(UUR)); cardiomyopathy; ragged-red fibers; respiratory chain enzyme deficiency;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Koga, Y Kurume Univ, Sch Med, Dept Pediat & Child Hlth, 67 Asahi Machi, Kurume, Fukuoka 8300011, Japan Kurume Univ 67 Asahi Machi Kurume Fukuoka Japan 8300011 011, Japan
Citazione:
R. Iwanaga et al., "Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy", ACT NEUROP, 101(2), 2001, pp. 179-184

Abstract

Fatal infantile mitochondrial cytopathy associated with a C3303T mutation in the mitochondrial tRNA(Leu(UUR)) gene has been reported clinically, biochemically and genetically. Here we have analyzed the percentage of this mutation in various autopsied tissues, and also in single muscle fibers using a micromanupulator, to evaluate the correlation between the pathology and heteroplasmic condition using polymerase chain reaction/restriction fragmentlength polymorphism. A 5-month-old Japanese girl was admitted to our hospital showing generalized muscle weakness, hepatomegaly, and cardiomegaly with lactic acidosis, and died at 6 months of age. Skeletal muscle showed severe degenerating myopathy found to be full of ragged-red fibers (RRFs), an increased number of lipid droplets, and severe cytochrome c oxidase (COX) deficiency. Microscopically hepatocytes showed massive accumulation in lipid droplets, and the heart muscle showed a network pattern suggesting metabolic cardiomyopathy. The activities of respiratory chain enzyme complex I and complex IV in the skeletal muscle were significantly decreased to 23.4% and5.0%, respectively, of the control value. The percentage of C3303T mutation in the patient tissues were variable, and ranged from 25% in the pancreasto 99% in the spinal cord. By single fiber analy sis, the percentages of C3303T mutation in RRFs with COX negative (group 1; 42.4+/-7.0) and with COXpositive (group 2; 58.2+/-5.8) were significantly higher than in non RRFs with normal COX staining (group 3; 10.7+/-6.3) (both P>0.001). Our patient showed a fatal infantile form of encephalopathy, myopathy and cardiomyopathy associated with widely distributed C3303T mutation in all of somatic cells.

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Documento generato il 07/07/20 alle ore 19:21:19