Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

By D. Astuti, F. Latif, A. Dallol, P. Dahia, F. Douglas, E. George, F. Sköldberg, E. Husebye, C. Eng, E. Maher. American Journal of Human Genetics, 2001

1,122 citations recorded by the source corpus.

Subfields: Cancer Research, Endocrinology, Diabetes and Metabolism, Surgery

View Paper: https://www.semanticscholar.org/paper/4c98a6e4dfa227bde900e377031b0b9f6b2d8737

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Citations in the corpus

A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine (2005, neutral): “(162), and SDHB (iron-sulfur) subunit (11, 227).”
Metabolic reprogramming and epigenetic modifications on the path to cancer (2021, background): “Fumarate and succinate antagonize the roles of α-KG In addition to IDH1 and IDH2, germinal and somatic mutations of fumarate hydratase (FH) and succinate dehydrogenases (SDHA, SDHB, SDHC, SDHD, and SDHAF2), encoding FH and SDH enzymes, are common in a number of human cancers (Baysal et al., 2000; As”
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. (2005, background): “Inherited neoplastic syndromes are also associated with mutation of the succinate dehydrogenase (SDH) complex (Astuti et al., 2001; Baysal et al., 2000; Niemann and Muller, 2000), which catalyzes the conversion of succinate to fumarate in the TCA cycle.”
Crystal structure of mitochondrial respiratory membrane protein complex II. (2005, background): “…be h lcaused by defects in the mitochondrial respiratory system and are mainly associated with mutation or truncastion of Complex II (Ackrell, 2002; Astuti et al., 2001a; Astuti et al., 2001b; Baysal et al., 2000; Bourgeron et t Cal., 1995; Douwes Dekker et al., 2003; Ishii et al., 1998; Niemann…”
Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. (2012, background): “…SDHA, SDHB, SDHC, SDHD, and SDHAF2), encoding for the subunits of two different Krebs cycle enzymes (FH and SDH), are mutated both germinally and somatically in a number of human cancers (Baysal et al. 2000; Astuti et al. 2001; Hao et al. 2009; Kaelin 2009; Bayley et al. 2010; Oermann et al. 2012).”
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer (2002, result): “Our results provide clues to the pathogenesis of fibroids and emphasize the importance of mutations of housekeeping and mitochondrial proteins in the pathogenesis of common types of tumo”
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. (2014, positive): “1 Evidence Since 1990, 14 different PPGL susceptibility genes have been reported: NF1 (135), RET (136), VHL (137), SDHD (138), SDHC (139), SDHB (140), EGLN1/PHD2 (141, 142), KIF1 (143), SDH5/SDHAF2 (144), IDH1 (145), TMEM127 (146), SDHA (147), MAX (148), and HIF2 (149).”
Mitochondrial mutations in cancer (2006, background): “The linkage of mutations in nDNA-encoded mitochondrial gene mutations to cancer (Baysal et al., 2000; Niemann and Muller, 2000; Astuti et al., 2001; Lehtonen et al., 2004; Vanharanta et al., 2004) raises the possibility that mtDNA mutations might also contribute to cancer etiology.”
The biology of cancer: metabolic reprogramming fuels cell growth and proliferation. (2008, background): “Similarly, SDHB and SDHD mutations can cause pheochromocytoma (Astuti et al., 2001; Gimm et al., 2000), and mutations in FH cause a dominant syndrome of uterine fibroids, leiomyomata, and papillary renal cell cancer (Tomlinson et al.”
Analysis of cancer metabolism by imaging hyperpolarized nuclei: prospects for translation to clinical research. (2011, background): “Similarly, mutations in the TCA cycle enzyme fumarate hydratase occur in a familial form of leiomyomatosis and renal cell cancer [13,22,23].”
Succinate dehydrogenase and fumarate hydratase: linking mitochondrial dysfunction and cancer (2006, background): “Following this initial discovery, it did not take long to identify the genes of two other HPGL-associated loci, PGL4 (1p36) and PGL3 (1q21), to be SDHB and SDHC, respectively (Niemann and Muller, 2000; Astuti et al., 2001).”