A role for mitochondrial enzymes in inherited neoplasia and beyond (original) (raw)
Latif, F. et al. Identification of the von Hippel?Lindau disease tumor suppressor gene. Science260, 1317?1320 (1993). ArticleCAS Google Scholar
Mulligan, L. M. et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet.6, 70?74 (1994). ArticleCAS Google Scholar
Eng, C. et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA276, 1575?1579 (1996). ArticleCAS Google Scholar
Kroll, A. J., Alexander, B., Cochios, F. & Pechet, L. Hereditary deficiencies of clotting factors VII and X associated with carotid-body tumors. N. Engl. J. Med.270, 6?13 (1964). ArticleCAS Google Scholar
van der Mey, A. G., Maaswinkel-Mooy, P. D., Cornelisse, C. J., Schmidt, P. H. & van de Kamp, J. J. Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory. Lancet2, 1291?1294 (1989). ArticleCAS Google Scholar
Heutink, P. et al. A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to 11q23-qter. Hum. Mol. Genet.1, 7?10 (1992). ArticleCAS Google Scholar
Heutink, P., van Schothorst, E. M. & van der Mey, A. G. L. Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families. Eur. J. Hum. Genet.2, 148?158 (1994). ArticleCAS Google Scholar
Baysal, B. E. et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science287, 848?851 (2000). Identification ofSDHDas the susceptiblity gene for 11q-linked hereditary paraganglioma families.SDHDis the first nuclear gene that encodes a mitochondrial component and that has been shown to be involved in a cancer-susceptiblity syndrome. ArticleCAS Google Scholar
Gimm, O., Armanios, M., Dziema, H., Neumann, H. P. H. & Eng, C. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in non-familial pheochromocytomas. Cancer Res.60, 6822?6825 (2000). CAS Google Scholar
Neumann, H. P. H. et al. Germ-line mutations in nonsyndromic pheochromocytoma. N. Engl. J. Med.346, 1459?1466 (2002). Population-based study showing that 25% of unrelated non-syndromic, non-familial phaeochromocytoma cases are due to germline mutations in one of four genes, includingSDHDandSDHB. ArticleCAS Google Scholar
Baysal, B. E. et al. Prevalence of SDHB, SDHC and SDHD in clinic patients with head and neck paragangliomas. J. Med. Genet.39, 178?183 (2002). ArticleCAS Google Scholar
Niemann, S. & Muller, U. Mutations in SDHC cause autosomal dominant paraganglioma. Nature Genet.26, 141?150 (2000). Article Google Scholar
Astuti, D. et al. Mutations in the mitochondrial complex II subunit SDHB cause susceptibility to familial paraganglioma and pheochromocytoma. Am. J. Hum. Genet.69, 49?54 (2001). Identification ofSDHBas the susceptibility gene for familial paraganglioma and/or phaeochromocytoma. ArticleCAS Google Scholar
Baysal, B. E. Hereditary paraganglioma targets diverse paranglia. J. Med. Genet.39, 617?622 (2002). ArticleCAS Google Scholar
Kiuru, M. et al. Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am. J. Pathol.159, 825?829 (2001). ArticleCAS Google Scholar
Launonen, V. et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc. Natl Acad. Sci. USA98, 3387?3392 (2001). ArticleCAS Google Scholar
Delahunt, B. & Eble, J. N. Renal cell neoplasia. Pathology34, 13?20 (2002). Article Google Scholar
Kiuru, M. et al. Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. Cancer Res.62, 4554?4557 (2002). CAS Google Scholar
Tomlinson, I. P. M. T. et al. Germline mutations in the fumarate hydratase gene predispose to dominantly inherited uterine fibroids, skin leiomyomata and renal cell cancer. Nature Genet.30, 406?410 (2002). Identification of germline heterozygous mutations inFHthat cause susceptibility to HLRCC. ArticleCAS Google Scholar
Alam, N. A. et al. Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q42. Am. J. Hum. Genet.68, 1264?1269 (2001). ArticleCAS Google Scholar
Gimenez-Roqueplo, A. -P. et al. The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes enzymatic activity of the complex II mitochondrial respiratory chain and activates the hypoxia pathway. Am. J. Hum. Genet.69, 1186?1197 (2001). First demonstration of loss of enzymatic activity as a consequence ofSDHDmutation and consequent alterations in molecules in the HIF pathway. ArticleCAS Google Scholar
Gimenez-Roqueplo, A. P. et al. Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma. J. Clin. Endocrinol. Metab.87, 4771?4774 (2002). ArticleCAS Google Scholar
Maher, E. R. & Eng, C. The pressure rises: update on the genetics of phaeochromocytoma. Hum. Mol. Genet.11, 2347?2354 (2002). ArticleCAS Google Scholar
Schapira, A. H. Mitochondrial dysfunction in neurodegenerative disorders. Biochim. Biophys. Acta1366, 225?233 (1998). ArticleCAS Google Scholar
Leigh, D. Subacute necrotizing encephalomyelopathy in an infant. J. Neurol. Neurosurg. Psychiatr.14, 216?221 (1951). ArticleCAS Google Scholar
Bourgeron, T. et al. Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. J. Clin. Invest.93, 2514?2518 (1994). ArticleCAS Google Scholar
Parfait, B. et al. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum. Genet.106, 236?243 (2000). ArticleCAS Google Scholar
Ackrell, B. A. C. Progress in understanding structure-function relationships in respiratory chain complex II. FEBS Lett.466, 1?5 (2000). ArticleCAS Google Scholar
Oyedotun, K. S. & Lemire, B. D. The quinone-binding sites of the Saccharomyces cerevisiae succinate-ubiquinone oxidoreductase. J. Biol. Chem.276, 16936?16943 (2001). ArticleCAS Google Scholar
Iverson, T. M., Luna-Chavez, C., Cecchini, G. & Rees, D. C. Structure of the Escherichia coli fumarate reductase complex. Science284, 1961?1966 (1999). ArticleCAS Google Scholar
Vinogradov, A. D., Ackrell, B. A. C. & Singer, T. P. On the possible interrelations of the reactivity of soluble succinate dehydrogenase with ferricyanide, reconstitution activity and the Hipip iron-sulfur center. Biochem. Biophys. Res. Comm.67, 803?809 (1975). ArticleCAS Google Scholar
Schmidt, D. M., Saghbini, M. & Scheffler, I. E. The C-terminus of the succinate dehydrogenase IP peptide of the Saccharomyces cerevisiae is signficiant for assembly of complex II. Biochemistry31, 8442?8448 (1992). ArticleCAS Google Scholar
Arias-Sella, J. & Valcarcel, J. Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance. Hum. Pathol.7, 361?373 (1976). Article Google Scholar
Chandel, N. S. et al. Mitochondrial reactive oxygen species trigger hypoxia-induced transcription. Proc. Natl Acad. Sci. USA95, 11715?11720 (1998). ArticleCAS Google Scholar
Clifford, S. C. et al. Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel?Lindau disease. Hum. Mol. Genet.10, 1029?1038 (2001). ArticleCAS Google Scholar
Hoffman, M. A. et al. von Hippel?Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum. Mol. Genet.10, 1019?1027 (2001). ArticleCAS Google Scholar
Teipel, J. W. & Hunt, R. L. The subunit interactions of fumarase. J. Biol. Chem.246, 4859?4865 (1971). CAS Google Scholar
van den Heuvel, L. et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18kD (AQDQ) subunit. Am. J. Hum. Genet.62, 262?268 (1998). ArticleCAS Google Scholar
Loeffen, J. et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am. J. Hum. Genet.63, 1598?1608 (1998). ArticleCAS Google Scholar
Triepels, R. H., van den Heuvel, L. & Loeffen, J. Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann. Neurol.45, 787?790 (1999). ArticleCAS Google Scholar
Tiranti, V. et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet.63, 1609?1621 (1998). ArticleCAS Google Scholar
Valnot, I., von Kleist-Retzow, J. C. & Barrientos, A. A mutation in the human heme A:farnesyltransferrase gene (COX 10) causes cytochrome c oxidase deficiency. Hum. Mol. Genet.9, 1245?1249 (2000). ArticleCAS Google Scholar
van Loo, G. et al. The role of mitochondrial factors in apoptosis: a Russian roulette with more than one bullet. Cell Death Differ.9, 1031?1042 (2002). ArticleCAS Google Scholar
Ravagnan, L., Roumier, T. & Kroemer, G. Mitochondria, the killer organelles and their weapons. J. Cell. Physiol.192, 131?137 (2002). ArticleCAS Google Scholar
López-Barneo, J., Pardal, R. & Ortega-Sáez, P. Cellular mechanisms of oxygen sensing. Annu. Rev. Physiol.63, 259?287 (2001). Article Google Scholar
Miramar, M. D. et al. NADH-oxidase activity of mitochondrial apoptosis inducing factor (AIF). J. Biol. Chem.276, 16391?16398 (2001). ArticleCAS Google Scholar
Scheulke, M., Smeitink, J. & Mariman, E. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nature Genet.21, 260?261 (1999). Article Google Scholar
Benit, P. et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am. J. Hum. Genet.68, 1344?1352 (2001). ArticleCAS Google Scholar
Loeffen, J. et al. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encphalomyopathy. Am. J. Hum. Genet.49, 195?201 (2001). CAS Google Scholar
de Lonlay, P. et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nature Genet.29, 57?60 (2001). ArticleCAS Google Scholar
Papadopoulou, L. C., Sue, C. M. & Davidson, M. Fatal infantile cardioencephalomyopathy with cytochrome c oxidase (COX) deficiency due to mutations in SCO2, a human COX assembly gene. Nature Genet.23, 333?337 (1999). ArticleCAS Google Scholar
Valnot, I., Ormond, S. & Gigarel, N. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase (COX) deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet.67, 1104?1109 (2000). CASPubMed Central Google Scholar
Servidei, S. Mitochondrial encephalomyopathies: gene mutation. Neuromuscul. Disord.12, 224?229 (2001). Google Scholar
Green, D. R. & Reed, J. C. Mitochondria and apoptosis. Science281, 1309?1312 (1998). ArticleCAS Google Scholar
Yeh, J. J. et al. Two-dimensional gene scanning of the mitochondrial genome reveals somatic mutations in papillary thyroid carcinomas and multiple sequence variants in cases with sporadic thyroid tumors. Oncogene19, 2060?2066 (2000). ArticleCAS Google Scholar
Polyak, K. et al. Somatic mutations of the mitochondrial genome in human colorectal tumours. Nature Genet.20, 291?293 (1998). ArticleCAS Google Scholar
Jeronimo, C. et al. Mitochondrial mutations in early state prostate cancer and bodily fluids. Oncogene20, 5195?5198 (2001). ArticleCAS Google Scholar
Kirches, E. et al. High frequency of mitochondrial DNA mutations in glioblastoma multiforme identified by direct sequence comparison to blood samples. Int. J. Cancer93, 534?538 (2001). ArticleCAS Google Scholar
Liu, V. W. et al. High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas. Cancer Res.61, 5998?6001 (2001). CAS Google Scholar
Maximo, V. et al. Microsatellite instability, mitochondrial DNA large deletions, and mitochondrial DNA mutations in gastric carcinoma. Gene Chromosom. Cancer32, 136?143 (2001). ArticleCAS Google Scholar
Parrella, P. et al. Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates. Cancer Res.61, 7623?7626 (2001). CAS Google Scholar