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Titolo:
Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis
Autore:
Ducluzeau, PH; Lachaux, A; Bouvier, R; Streichenberger, N; Stepien, G; Mousson, B;
Indirizzi:
Hop Debrousse, Biochim Lab, F-69322 Lyon, France Hop Debrousse Lyon France F-69322 sse, Biochim Lab, F-69322 Lyon, France Hop Edouard Herriot, Serv Gastroenterol Infantile, Lyon, France Hop Edouard Herriot Lyon France v Gastroenterol Infantile, Lyon, France Hop Edouard Herriot, Anat Pathol Lab, Lyon, France Hop Edouard Herriot Lyon France Herriot, Anat Pathol Lab, Lyon, France Hop Neurol, Anat Pathol Lab, Lyon, France Hop Neurol Lyon FranceHop Neurol, Anat Pathol Lab, Lyon, France Ctr Genet Mol & Cellulaire, CNRS, UMR 5534, Villeurbanne, France Ctr GenetMol & Cellulaire Villeurbanne France 34, Villeurbanne, France
Titolo Testata:
JOURNAL OF HEPATOLOGY
fascicolo: 1, volume: 30, anno: 1999,
pagine: 149 - 155
SICI:
0168-8278(199901)30:1<149:DOMDAW>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
MTDNA DEPLETION; OXIDATIVE-PHOSPHORYLATION; DEOXYRIBONUCLEIC-ACID; MYOPATHY; INVOLVEMENT; DEFICIENCY; INSUFFICIENCY; FAILURE; PATIENT; MUSCLE;
Keywords:
depletion; lactic acidosis; liver fibrosis; mitochondrial DNA; neonatal cholestasis; oncocytic appearance; respiratory chain;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
26
Recensione:
Indirizzi per estratti:
Indirizzo: Mousson, B Hop Debrousse, Biochim Lab, 29 Rue Soeur Bouvier, F-69322 Lyon,France Hop Debrousse 29 Rue Soeur Bouvier Lyon France F-69322 France
Citazione:
P.H. Ducluzeau et al., "Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis", J HEPATOL, 30(1), 1999, pp. 149-155

Abstract

Few cases of infantile liver disease associated with mitochondrial DNA (mtDNA) depletion have been reported. Most of the patients died before 1 year of age of severe liver failure. We describe a new case, a 28-month-old child, presenting with cholestasis at age 2 months, complicated by progressive portal and lobular liver fibrosis, Growth and psychomotor development are undisturbed. There is no clinical evidence of either myopathy or neurological involvement. Metabolic investigation in plasma revealed an abnormal oxide-reduction status after fasting and after carbohydrate-rich meals. Light microscopy performed on liver biopsies revealed steatosis, abnormal hepatocytes with an "oncocytic" appearance and extensive fibrosis, Electron microscopic investigation showed an increased number of mitochondria with rare or enlarged cristae, Biochemical studies of liver biopsies showed that the respiratory chain activities containing mtDNA-encoded subunits were severely decreased (complexes I, III and IV). In contrast, the complex II activity wasnormal and the citrate synthase activity was greatly increased, Southern blotting analysis revealed that the ratio of mtDNA to nuclear DNA in liver was only 15% and 20% of the mean control value at ages 12 and 21 months, respectively. For this mtDNA depletion syndrome which is clinically expressed in the liver, a liver transplantation is discussed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 07:54:52