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SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Open accessAbstract
Tapping the Mitochondrial Proteome: Mitochondria produce the energy that cells need to survive, function, and divide. A growing list of human disorders has been traced to defects in mitochondrial function. About 300 mammalian mitochondrial proteins are functionally uncharacterized, and Hao et al. (p. 1139 , published online 23 July) reasoned that the most highly conserved proteins within this group might provide insights into human disease. A combination of bioinformatics, yeast genetics, biochemistry, and human genetics was used to show that a previously uncharacterized mitochondrial protein (Sdh5) is required for the activity of respiratory complex II. Inactivating mutations in the human gene encoding SDH5 were found in individuals with hereditary paraganglioma, a rare neuroendocrine tumor. Thus, analysis of a mitochondrial protein in yeast has revealed a human tumor susceptibility gene.
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“Despite ubiquitous expression of the metabolic enzyme succinate dehydrogenase (SDH), germline mutations in subunits of this complex cause cancer only in a few sites, including neuroendocrine tissues (paraganglioma), the adrenal gland (pheochromocytoma), and the stomach and small intestine (gastrointestinal stromal tumors) (8–10).”
From Metabolic reprogramming and cancer progression (2020) · cites this paper as [10]
In the citing paper
“Germline SDH mutations have been identified in the SDH subunits SDHA–SDHD and also in SDH assembly factor 2 in tumor predisposition syndromes (Hao et al., 2009; Korpershoek et al., 2011; Neumann et al., 2004; Niemann and Müller, 2000; Oudijk et al., 2013; Pollard et al., 2005; Ricketts et al., 2008; Ricketts et al., 2010).”
From SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways (2013) · cites this paper as Hao et al., 2009
In the citing paper
“Consistently, heterozygous germline mutations in genes encoding the TCA cycle enzymes involved in the breakdown of these metabolites—SDH and FH—have been shown to facilitate the pathogenesis of certain rare cancers (e.g., paragangliomas) and inherited cancer-predisposition syndromes (181, 182, 183).”
From Regulation and function of the mammalian tricarboxylic acid cycle (2023) · cites this paper as [182]
In the citing paper
“Loss-of-function mutations have been identified in all four subunits of the SDH complex (Baysal, 2008; Burnichon et al., 2010), and in SDH5, which encodes a protein involved in incorporation of SDH’s flavin adenine dinucleotide cofactor (Hao et al., 2009).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Hao et al., 2009
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“Mutations in SDH5, which is involved in the assembly of SDHD into the complex, were also recently documented in hereditary paraganglioma”
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Metadata
- Authors
- Hao, H.-X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.-P., Kunst, H., Devilee, P., Cremers, C. W. R. J., Schiffman, J. D., Bentz, B. G., Gygi, S. P., Winge, D. R., Kremer, H., & Rutter, J.
- Affiliations
- University of Utah (US)
- Radboud University Medical Center (NL)
- Harvard University (US)
- Leiden University Medical Center (NL)
- Corresponding author
- Rutter, Jared
- ORCID
- Venue
- Science
- Published
- 2009-08-28
- Volume
- 325
- Issue
- 5944
- Pages
- 1139-1142
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC3881419
- OpenAlex
- W2028117213
- Cited by
- 702
- References
- 26
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 12 · 2023: 26 · 2022: 31 · 2021: 29 · 2020: 37 · 2019: 39 · 2018: 38 · 2017: 47 · 2016: 42 · 2015: 48 · 2014: 64 · 2013: 68 · 2012: 76
- FWCI
- 65.83
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Lincoln (University of Nebraska) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Funders
- National Institute of General Medical Sciences (R01GM087346, GM087346)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK071962)
- National Institute of Environmental Health Sciences (R01ES003817)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- succinate dehydrogenase, flavin adenine dinucleotide, paraganglioma, hereditary paraganglioma, germline mutations, mitochondrial proteins, cancer susceptibility genes, mitochondrial electron transport chain, TCA cycle, yeast model
- MeSH terms
- Amino Acid Sequence, Cell Line, Flavin-Adenine Dinucleotide, Female, Flavoproteins, Haplotypes, Humans, Male, Mitochondria, Molecular Sequence Data, Oxygen Consumption, Paraganglioma, Pedigree, Saccharomyces cerevisiae, Succinate Dehydrogenase, Germ-Line Mutation, Protein Subunits, Mitochondrial Proteins, Saccharomyces cerevisiae Proteins, Inheritance Patterns, Proteomics, Cell Line, Tumor
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