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succinate dehydrogenase

Wednesday 2 June 2004

SDH, mitochondrial complex II, succinate-ubiquinone oxiereductase, mitochondrial succinate dehydrogenase

Components: |SDHA |SDHB |SDHC |SDHD |

The succinate dehydrogenase complex has several cofactors, including flavin, iron-sulfur centers and heme.


- In genetic diseases

  • Leigh syndrome (SDHA)
  • deficiency of complex II of mitochondrial respiratory chain (MIM.252011) (SDHA)
  • susceptibility to head and neck paraganglioma (SDHB, SDHC, SDHD)
  • familial and isolated phaeochromocytoma (SDHD and SDHB)
  • early onset renal cell carcinoma (RCC) (SDHB)
  • pheochromocytoma-paraganglioma syndrome
  • Cowden disease (18678321)
  • Cowden-like syndromes (18678321)

- in tumors


- Ni Y, Zbuk KM, Sadler T, Patocs A, Lobo G, Edelman E, Platzer P, Orloff MS, Waite KA, Eng C. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. Am J Hum Genet. 2008 Aug;83(2):261-8.PMID: 18678321


- Rustin P, Munnich A, Rotig A. Succinate dehydrogenase and human diseases: new insights into a well-known enzyme. Eur J Hum Genet. 2002 May;10(5):289-91. PMID: 12082502

- Baysal BE. On the association of succinate dehydrogenase mutations with hereditary paraganglioma. Trends Endocrinol Metab. 2003 Dec;14(10):453-9. PMID: 14643060