Cited by 702Adrenal and Paraganglionic TumorsMitochondrial Function and PathologyMetabolism and Genetic Disorders

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SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

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Hao, Huai-Xiang, Khalimonchuk, Oleh, Schraders, Margit, Dephoure, Noah, Bayley, Jean-Pierre, Kunst, Henricus, Devilee, Peter, Cremers, Cor W. R. J., Schiffman, Joshua D., Bentz, Brandon G., Gygi, Steven P., Winge, Dennis R., Kremer, Hannie, Rutter, Jared·2009·Science

DOI 10.1126/science.1175689PMC PMC3881419

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Abstract

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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“Az SDHB, SDHC és SDHD géneken kívül az elmúlt 8 évben további 9 gén betegség-okozó mutációit azonosították örökletes paragangliomákban (SDHA, SDHAF2, FH, KIF1B, PHD2, MAX, TMEM127, MDH2 és GOT2 gén mutációk) [27-35].”
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Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
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“In 2009, SDH5 was identified as another assembly factor of SDH, and mutations in the SDH5 gene (also known as the SDHAF2 gene) were found in PGL2 families in the Netherlands and Spain.(1,5) Recently, the SDHA gene, which was thought to be responsible for Leigh syndrome, was also suggested to be a PGL-related gene.”
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Trp53 inactivation leads to earlier phaeochromocytoma formation in pten knockout mice
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“The discovery of the succinate dehydrogenase 5 gene ( SDH5 ), which is required to incorporate the flavin-adenine dinucleotide cofactor into the SDHA catalytic subunit, could potentially increase the fraction of paragangliomas caused by germ line mutations”
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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: Hao, Huai-Xiang
Khalimonchuk, Oleh
Dephoure, Noah
Bayley, Jean-Pierre
Kunst, Henricus
Devilee, Peter
Schiffman, Joshua D.
Gygi, Steven P.
Winge, Dennis R.
Kremer, Hannie
Rutter, Jared
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 2009-08-28
Volume: 325
Issue: 5944
Pages: 1139-1142
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.1175689
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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SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

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