SDH Cancer
SDH Cancer

Diseases Associated with SDH Mutations

SDHA
Cardiomyopathy, Dilated 
Carney Triad 
Leigh Disease
Mitochondrial Complex II Deficiency
Muscular Diseases
Neoplastic Syndromes, Hereditary
Paraganglioma

Pheochromocytoma

Pituitary tumors


SDHB
Carcinoma, Renal Cell
Carney Triad
Carney-Stratakis Syndrome
Cowden-Like Syndrome
Gastrointestinal Stromal Tumors
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Neoplastic Syndromes, Hereditary
Paraganglioma
Pheochromocytoma


SDHC
Carney Triad
Carney-Stratakis Syndrome 
Gastrointestinal Stromal Tumors
Neoplastic Syndromes, Hereditary
Paraganglioma
Pheochromocytoma

Pituitary tumors


SDHD
Carcinoid Tumors, Intestinal
Carcinoma, Merkel Cell
Carcinoma, Renal Cell
Carney-Stratakis Syndrome
Carotid Body Tumor
Combined Oxidative Phosphorylation Deficiency 8
Cowden-Like Syndrome
Hamartoma Syndrome, Multiple
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Mitochondrial Complex II Deficiency
Neoplastic Syndromes, Hereditary
Paraganglioma
Pheochromocytoma


SDHAF1
Dementia, Vascular
Mitochondrial Complex II Deficiency


SDHAF2
Hepatolenticular Degeneration
Hereditary Paraganglioma-Pheochromocytoma Syndromes
Neoplastic Syndromes, Hereditary
Paraganglioma
Tumor Predisposition Syndrome

 

Source: http://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1318463

 

 

SDHA
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

 

SDHAF2
This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010

 

SDHB
Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]

 

SDHC
This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

 

SDHD

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

 

 

http://rgd.mcw.edu/rgdweb/search/genes.html?term=SDHB&chr=ALL&start=&stop=&map=360&speciesType=1&obj=gene

 

Pheochromocytoma: Gasping for Air

 

Mutations in genes encoding metabolic enzymes, such as SDHx subunits, IDH1, FH, or MDH2
(all were identified in PHEOs/PGLs as well as in a variety of other tumors, including:
acute myelogenous leukemia,
gliomas,
chondrosarcomas,
kidney cancer,

disrupt the tricarboxylic acid (TCA) cycle and increase dependence on oxidative mitochondrial metabolism.

 

https://link.springer.com/article/10.1007%2Fs12672-015-0231-4

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum​

 

This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Furthermore, our results indicate that pancreatic neuroendocrine tumor also falls within the SDH-related tumor spectrum.

 

https://academic.oup.com/jcem/article-abstract/100/10/E1386/2835762/Succinate-Dehydrogenase-SDH-Deficient-Pancreatic?redirectedFrom=fulltext

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