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Titolo:
Phenotypic dichotomy in mitochondrial complex II genetic disorders
Autore:
Baysal, BE; Rubinstein, WS; Taschner, PEM;
Indirizzi:
Univ Pittsburgh, Med Ctr, Dept Psychiat, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 sychiat, Pittsburgh, PA 15213 USA Univ Pittsburgh, Med Ctr, Dept Otolaryngol, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 aryngol, Pittsburgh, PA 15213 USA Univ Pittsburgh, Med Ctr, Dept Human Genet, Pittsburgh, PA 15213 USA Univ Pittsburgh Pittsburgh PA USA 15213 n Genet, Pittsburgh, PA 15213 USA Leiden Univ, Med Ctr, Dept Human & Clin Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands Human & Clin Genet, Leiden, Netherlands
Titolo Testata:
JOURNAL OF MOLECULAR MEDICINE-JMM
fascicolo: 9, volume: 79, anno: 2001,
pagine: 495 - 503
SICI:
0946-2716(200109)79:9<495:PDIMCI>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
TUMOR-SUPPRESSOR GENE; SUCCINATE-UBIQUINONE OXIDOREDUCTASE; VONHIPPEL-LINDAU DISEASE; NUCLEAR RESPIRATORY FACTORS; ENDOCRINE NEOPLASIA TYPE-2; ELECTRON-TRANSPORT CHAIN; HEREDITARY GLOMUS TUMORS; ONSET OPTIC ATROPHY; MUTANT-CELL LINE; RET PROTOONCOGENE;
Keywords:
mitochondrial complex II; hereditary paraganglioma; imprinting; chromosome 11q23;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
75
Recensione:
Indirizzi per estratti:
Indirizzo: Baysal, BE Univ Pittsburgh, Med Ctr, Dept Psychiat, 3811 OHara St R1445, Pittsburgh, PA 15213 USA Univ Pittsburgh 3811 OHara St R1445 Pittsburgh PA USA 15213 USA
Citazione:
B.E. Baysal et al., "Phenotypic dichotomy in mitochondrial complex II genetic disorders", J MOL MED-J, 79(9), 2001, pp. 495-503

Abstract

This review presents our current knowledge on the genetic and phenotypic aspects of mitochondrial complex II gene defects, The mutations of the complex II subunits cause two strikingly different group of disorders, revealinga phenotypic dichotomy. Genetic disorders of the mitochondrial respiratorychain are often characterized by hypotonia, growth retardation, cardiomyopathy, myopathy, neuropathy, organ failure, and metabolic derangement. Thesedisorders are transmitted through maternal lineage if the defective gene is located in the mitochondrial genome or may follow a Mendelian pattern if it is in the nucleus. Mitochondrial complex II (succinate:ubiquinone oxidoreductase) is the smallest complex in the respiratory chain and is composed of four subunits encoded by nuclear genes SDHA, SDHB, SDHC, and SDHD. Complex II oxidizes succinate to fumarate in the Krebs cycle and is involved in the mitochondrial electron transport chain. SDHA and SDHB encode the flavoprotein and iron-sulfur proteins, respectively, and SDHC and SDHD encode thetwo hydrophobic membrane-spanning subunits. While mutations in SDHA display a phenotype resembling other mitochondrial and Krebs cycle gene defects, those in SDHB, SDHC and SDHD cause hereditary paraganglioma. Paraganlioma is characterized by slow-growing vascular tumors of the paraganglionic tissue (i.e., adrenal and extraadrenal paragangliomas, including those in the head and neck, mediastinum, abdomen, and pheochromocytomas). Paraganglioma caused by SDHD mutations occurs exclusively after paternal transmission, suggesting that genomic imprinting influences gene expression. Association of amitochondrial gene defect with tumorigenesis expands the phenotypic spectrum of mitochondrial diseases and adds genomic imprinting as a new transmission mode in mitochondrial genetics. The phenotypic features of complex II gene mutations suggest that whereas the catalytic subunit SDHA mutations maycompromise the Krebs cycle, those in other structural subunits may affect oxygen sensing and signaling.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/01/20 alle ore 09:51:24