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Titolo:
PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/
Autore:
WILICHOWSKI E; KORENKE GC; RUITENBEEK W; DEMEIRLEIR L; HAGENDORFF A; JANSSEN AJM; LISSENS W; HANEFELD F;
Indirizzi:
UNIV GOTTINGEN,DEPT PEDIAT & NEUROPEDIAT,ROBERT KOCH STR 40 D-37075 GOTTINGEN GERMANY UNIV NIJMEGEN HOSP,DEPT PEDIAT NL-6500 HB NIJMEGEN NETHERLANDS FREE UNIV BRUSSELS,DEPT PEDIAT & MED GENET BRUSSELS BELGIUM PROF HESS KINDERKLIN BREMEN GERMANY
Titolo Testata:
Journal of the neurological sciences
fascicolo: 2, volume: 157, anno: 1998,
pagine: 206 - 213
SICI:
0022-510X(1998)157:2<206:PCDAAR>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
STROKE-LIKE EPISODES; TRANSFER RNALEU(UUR) GENE; MITOCHONDRIAL-DNA; LACTIC-ACIDOSIS; TRANSCRIPTION TERMINATION; CLINICAL-FEATURES; MELAS MUTATION; POINT MUTATION; PROTEIN IMPORT; MYOPATHY;
Keywords:
KEARNS-SAYRE SYNDROME; MELAS; MITOCHONDRIAL DNA; PYRUVATE DEHYDROGENASE; RESPIRATORY CHAIN; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCIES;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
51
Recensione:
Indirizzi per estratti:
Citazione:
E. Wilichowski et al., "PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY AND ALTERED RESPIRATORY-CHAIN FUNCTION IN A PATIENT WITH KEARNS-SAYRE MELAS OVERLAP SYNDROME AND A3243G MTDNA MUTATION/", Journal of the neurological sciences, 157(2), 1998, pp. 206-213

Abstract

Combined alteration of the pyruvate dehydrogenase complex and respiratory chain function is described in a 21 year-old male patient with overlapping MELAS (mitochondrial encephalomyopathy, lactic acidosis, and'stroke-like' episodes) and Keams-Sayre syndrome. Progressive external ophthalmoplegia, pigmentary retinopathy and right bundle branch block were present when he experienced the first 'stroke-like' episode at 18 years old. The A>G tRNA(Leu(UUR)) point mutation at nucleotide 3243of the mitochondrial DNA was predominant in muscle tissue (79%) and present, but at lower levels in fibroblasts (49%) and blood cells (37%). Biochemical analysis revealed diminished activities of pyruvate dehydrogenase (23%) and respiratory chain complexes I and IV (57%, respectively) in muscle, but normal activities in the fibroblasts. Immunochemical studies of the muscular pyruvate dehydrogenase components showed normal content of E1 alpha, E1 beta and E2 protein. Molecular screening of the E1 alpha gene did not indicate a nuclear mutation. These observations suggest that mitochondrial DNA defects may be associated withaltered nuclear encoded enzymes which are actively imported into mitochondria and constitute components of the mitochondrial matrix. Biochemical workup of mitochondrial disorders should not be restricted to the respiratory chain even if mitochondrial DNA mutations are present. (C) 1998 Elsevier Science B.V.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/09/20 alle ore 11:52:30