SDH mutations in cancer

Bardella, Chiara; Pollard, Patrick J.; Tomlinson, Ian

doi:10.1016/j.bbabio.2011.07.003

Cited by 395Adrenal and Paraganglionic TumorsCancer, Hypoxia, and MetabolismMetabolism and Genetic Disorders

SDH mutations in cancer

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Bardella, Chiara, Pollard, Patrick J., Tomlinson, Ian·2011·Biochimica et Biophysica Acta (BBA) - Bioenergetics

DOI 10.1016/j.bbabio.2011.07.003

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Abstract

The SDHA, SDHB, SDHC, SDHD genes encode the four subunits of succinate dehydrogenase (SDH; mitochondrial complex II), a mitochondrial enzyme involved in two essential energy-producing metabolic processes of the cell, the Krebs cycle and the electron transport chain. Germline loss-of-function mutations in any of the SDH genes or assembly factor (SDHAF2) cause hereditary paraganglioma/phaeochromocytoma syndrome (HPGL/PCC) through a mechanism which is largely unknown. Owing to the central function of SDH in cellular energy metabolism it is important to understand its role in tumor suppression. Here is reported an overview of genetics, clinical and molecular progress recently performed in understanding the basis of HPGL/PCC tumorigenesis.

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Mutations in complex II subunits C and D near the Qp site are associated with hereditary paragangliomas and pheochromocytomas, and SdhA mutations can cause Leigh syndrome.
“This seems to be especially the case for mutations in complex II subunits C and D located in the vicinity of the Qp site that have been associated with specific forms of cancer such as hereditary paragangliomas and pheochromocytomas (overview in [13,14,36]) and in SdhA that can cause Leigh syndrome, a progressive neurodegenerative disease [14,94].”
From Differential effects of complex II on mitochondrial ROS production and their relation to cardioprotective pre- and postconditioning (2013) · cites this paper as [13]
SDH mutation was discovered in paraganglioma and pheochromocytoma, and later in gastrointestinal, neuroblastoma, renal, thyroid, and testicular tumors.
“In 2008, mutation of SDH was discovered in cancers such as paraganglioma and pheochromocytoma cells124. Later, similar observations were made in gastrointestinal tumors, neuroblastomas, renal tumors, thyroid tumors, and testicular tumors125,126.”
From Glutamine reliance in cell metabolism (2020) · cites this paper as [125]

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Untitled work
(2000) · doi:10.1002/1096-8628(20010101)98:1

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Authors: Bardella, C., Pollard, P. J., & Tomlinson, I.
Affiliations: Centre for Human Genetics (GB)
University of Oxford (GB)
Corresponding author: Tomlinson, Ian
ORCID: Bardella, Chiara
Pollard, Patrick J.
Tomlinson, Ian
Venue: Biochimica et Biophysica Acta (BBA) - Bioenergetics
Publisher: Elsevier BV
Published: 2011-11
Volume: 1807
Issue: 11
Pages: 1432-1443
ISSN: 0005-2728 (ISSN-L)
DOI: 10.1016/j.bbabio.2011.07.003
OpenAlex: W2074477247
Cited by: 395
References: 150
Citations by year: 2026: 15 · 2025: 28 · 2024: 33 · 2023: 25 · 2022: 26 · 2021: 33 · 2020: 20 · 2019: 37 · 2018: 28 · 2017: 23 · 2016: 30 · 2015: 12 · 2014: 31 · 2013: 26 · 2012: 27
FWCI: 4.91
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 625 d)
Locations: Biochimica et Biophysica Acta (BBA) - Bioenergetics (publishedVersion)
PubMed (publishedVersion)
University of Birmingham Research Portal (University of Birmingham) (submittedVersion, other-oa)
Funders: Wellcome Trust (090532/Z/09/Z)
Topics: Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: succinate dehydrogenase, SDH mutations, SDHA, SDHB, SDHC, SDHD, SDHAF2, hereditary paraganglioma, pheochromocytoma, tumor suppression, TCA cycle, electron transport chain, carcinogenesis, germline mutations
MeSH terms: Animals, Humans, Isoenzymes, Mitochondria, Mutation, Neoplasms, Succinate Dehydrogenase, Genes, Tumor Suppressor, Protein Subunits

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