Mitochondrial complex II deficiency

Definition:

Mitochondrial complex II (CII, succinate dehydrogenase complex) deficiency is a rare cause of mitochondrial respiratory chain defects. CII functions in the TCA cycle and in the mitochondrial electron transport chain (ETC). Four structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded. Mutations in SDHA, SDHD, and SDHAF1 have been found in patients. CII deficiency has a variable phenotype. Brain imaging is abnormal in majority of the patients and consists of leukoencephalopathy, Leigh syndrome or cerebellar atrophy.

References:

[1]. Charlotte L Alston, et al. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet. 2012 Sep;49(9):569-77. [Content Brief]

[2]. Christopher Benjamin Jackson, et al. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J Med Genet. 2014 Mar;51(3):170-5. [Content Brief]

[3]. Daniele Ghezzi, et al. SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet. 2009 Jun;41(6):654-6. [Content Brief]

[4]. Shailly Jain-Ghai, et al. Complex II deficiency--a case report and review of the literature. Am J Med Genet A. 2013 Feb;161A(2):285-94. [Content Brief]

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