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    SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) [ Homo sapiens (human) ]

    Gene ID: 6389, updated on 18-Jul-2015

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Overall, 9 of the 34 patients with KIT/PDGFRA wild-type GIST carried mutations in one of the four subunits of the SDH complex (six patients in SDHA, two in SDHB, one in SDHC

    Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
    Pantaleo MA, Astolfi A, Urbini M, Nannini M, Paterini P, Indio V, Saponara M, Formica S, Ceccarelli C, Casadio R, Rossi G, Bertolini F, Santini D, Pirini MG, Fiorentino M, Basso U, Biasco G, GIST Study Group., Free PMC Article

    SDH deficiency may promote tumorigenesis through accumulation of succinate and inhibition of dioxygenase enzymes. Inhibition of TET activity may, in turn, alter global DNA methylation and gene expression in SDH-deficient tumors.

    Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethylcytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis.
    Mason EF, Hornick JL.

    Data indicate that SDH5 is protected from mitochondrial LON protease (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).

    Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA.
    Bezawork-Geleta A, Saiyed T, Dougan DA, Truscott KN.

    Electron transport complex-II and manganese superoxide dismutase (MnSOD) enzyme activities were decreased in obese compared with non-obese pregnant women.

    Skeletal muscle MnSOD, mitochondrial complex II, and SIRT3 enzyme activities are decreased in maternal obesity during human pregnancy and gestational diabetes mellitus.
    Boyle KE, Newsom SA, Janssen RC, Lappas M, Friedman JE., Free PMC Article

    A significant subset of bladder paragangliomas is SDH deficient

    Identification of succinate dehydrogenase-deficient bladder paragangliomas.
    Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA.

    SDHA immunohistochemistry on gastrointestinal stromal tumors can identify the presence of an SDHA germline mutation.

    SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.
    Oudijk L, Gaal J, Korpershoek E, van Nederveen FH, Kelly L, Schiavon G, Verweij J, Mathijssen RH, den Bakker MA, Oldenburg RA, van Loon RL, O'Sullivan MJ, de Krijger RR, Dinjens WN.

    In the paraganglioma of the proband, in addition to the germline mutation, a somatic mutation was observed (c.1865G>A, p.Trp622*).

    Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.
    Dwight T, Mann K, Benn DE, Robinson BG, McKelvie P, Gill AJ, Winship I, Clifton-Bligh RJ.

    Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families.

    Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors.
    Baysal BE.

    Loss of SDHA expression in gastrointestinal stromal tumor (GIST) reliably predicts the presence of SDHA mutations, which represent a relatively common cause of SDH-deficient GIST in adults.

    Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors.
    Wagner AJ, Remillard SP, Zhang YX, Doyle LA, George S, Hornick JL.

    Studies indicate that the pH change leads to the dissociation of SDHA and SDHB subunits from the remaining membrane-anchored subunits and the consequent block of enzymatic succinate-ubiquinone reductase (SQR) activity.

    Respiratory chain complex II as general sensor for apoptosis.
    Grimm S.

    Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.

    The role of complex II in disease.
    Hoekstra AS, Bayley JP.

    Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation.

    Emerging concepts in the flavinylation of succinate dehydrogenase.
    Kim HJ, Winge DR., Free PMC Article

    A germline p.Arg31X nonsense SDHA mutation was identified in one of the six wild-type gastrointestinal stromal tumors cases. An additional SDHA missense mutation was identified in the extended KIT/PDGFRA WT GIST patients cohort.

    SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.
    Italiano A, Chen CL, Sung YS, Singer S, DeMatteo RP, LaQuaglia MP, Besmer P, Socci N, Antonescu CR., Free PMC Article

    Data indicate that SDHB-deficiency was tightly associated with overexpression of IGF1R protein and transcript, and Biallelic inactivation of the SDHA gene was identified in 5 of 11 SDHB-negative gastrointestinal stromal tumors.

    Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation of SDHA in wild-type SDHB-negative gastrointestinal stromal tumors.
    Belinsky MG, Rink L, Flieder DB, Jahromi MS, Schiffman JD, Godwin AK, Mehren Mv., Free PMC Article

    This report represents the first example of SDHB mutation as a cause of inherited mitochondrial respiratory chain disease and extends the SDHA mutation spectrum in patients with isolated complex II deficiency.

    Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
    Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW., Free PMC Article

    Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.

    Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
    Dwight T, Benn DE, Clarkson A, Vilain R, Lipton L, Robinson BG, Clifton-Bligh RJ, Gill AJ.

    SDHA-negative gastrointestinal stromal tumors comprise approximately 30% of SDHB-negative/SDH-deficient gastrointestinal stromal tumors, and SDHA loss generally correlates with SDHA mutations.

    Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
    Miettinen M, Killian JK, Wang ZF, Lasota J, Lau C, Jones L, Walker R, Pineda M, Zhu YJ, Kim SY, Helman L, Meltzer P., Free PMC Article

    Tumor-derived FH and SDH mutations accumulate fumarate and succinate, leading to enzymatic inhibition of multiple alpha-KG-dependent dioxygenases and consequent alterations of genome-wide histone and DNA methylation.

    Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.
    Xiao M, Yang H, Xu W, Ma S, Lin H, Zhu H, Liu L, Liu Y, Yang C, Xu Y, Zhao S, Ye D, Xiong Y, Guan KL., Free PMC Article

    A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.

    Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
    Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S.

    First report describing germline and somatic loss-of-function mutations in SDHA that are linked to the development of sporadic KIT/PDGFRA wild-type GISTs.

    SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.
    Pantaleo MA, Astolfi A, Indio V, Moore R, Thiessen N, Heinrich MC, Gnocchi C, Santini D, Catena F, Formica S, Martelli PL, Casadio R, Pession A, Biasco G.

    Cells with Complex II defect may undergo a progressive mitochondrial dysfunction, characterized by Dcmit loss, Calcium overload and increased ROS, eventually leading to cell death.

    Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency.
    Mbaya E, Oulès B, Caspersen C, Tacine R, Massinet H, Pennuto M, Chrétien D, Munnich A, Rötig A, Rizzuto R, Rutter GA, Paterlini-Bréchot P, Chami M.

    study presents the association of a mutation in the SDHA gene with recessive neonatal isolated dilated cardiomyopathy in 15 patients of two large consanguineous Bedouin families

    Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
    Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, Beck JC, Sheffield V, Parvari R., Free PMC Article

    Decreased electron Transport Complex II activity is associated with ulcerative colitis.

    Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis.
    Sifroni KG, Damiani CR, Stoffel C, Cardoso MR, Ferreira GK, Jeremias IC, Rezin GT, Scaini G, Schuck PF, Dal-Pizzol F, Streck EL.

    Mutations in electron Transport Complex II is associated with Leber hereditary optic neuropathy failing to compensate for impaired oxidative phosphorylation.

    Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation.
    Korsten A, de Coo IF, Spruijt L, de Wit LE, Smeets HJ, Sluiter W.

    Phosphorylation of flavoprotein subunit ofsuccinate-ubiquinone reductase might be important for maintaining mitochondrial energy metabolism within the tumor microenvironment.

    Regulation of succinate-ubiquinone reductase and fumarate reductase activities in human complex II by phosphorylation of its flavoprotein subunit.
    Tomitsuka E, Kita K, Esumi H., Free PMC Article

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