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Succinate-coenzyme Q reductase deficiency

MedGen UID:
344401
Concept ID:
C1855008
Disease or Syndrome
Synonyms: Mitochondrial Complex II Deficiency; Succinate CoQ Reductase Deficiency
SNOMED CT: Complex II deficiency (237989003); Succinate-coenzyme Q reductase deficiency (237989003)
 
OMIM®: 252011

Definition

An autosomal recessive condition characterized by decreased activity of the mitochondrial respiratory chain enzyme complex succinate dehydrogenase (SDH; mitochondrial complex II), which can be caused by loss of function mutation(s) in the any of the genes that encode subunits of SDH. The clinical presentation of this deficiency shows wide variation that ranges from isolated muscle weakness to multisystem symptoms involving the brain, heart and musculoskeletal system with complications such as encephalopathy. Additionally, this condition is associated with an increased risk for cancer because of increased levels of succinate. [from NCI]

Professional guidelines

PubMed

Matlac DM, Hadrava Vanova K, Bechmann N, Richter S, Folberth J, Ghayee HK, Ge GB, Abunimer L, Wesley R, Aherrahrou R, Dona M, Martínez-Montes ÁM, Calsina B, Merino MJ, Schwaninger M, Deen PMT, Zhuang Z, Neuzil J, Pacak K, Lehnert H, Fliedner SMJ
Front Endocrinol (Lausanne) 2021;12:589451. Epub 2021 Mar 12 doi: 10.3389/fendo.2021.589451. PMID: 33776908Free PMC Article
Neppala P, Banerjee S, Fanta PT, Yerba M, Porras KA, Burgoyne AM, Sicklick JK
Cancer Metastasis Rev 2019 Sep;38(3):525-535. doi: 10.1007/s10555-019-09818-0. PMID: 31773431Free PMC Article
Horvath R
J Inherit Metab Dis 2012 Jul;35(4):679-87. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9434-1. PMID: 22231380

Recent clinical studies

Etiology

Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE
Science 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. PMID: 36074821Free PMC Article
Zhao Y, Feng F, Guo QH, Wang YP, Zhao R
World J Gastroenterol 2020 Sep 14;26(34):5074-5089. doi: 10.3748/wjg.v26.i34.5074. PMID: 32982110Free PMC Article
Martínez-Reyes I, Cardona LR, Kong H, Vasan K, McElroy GS, Werner M, Kihshen H, Reczek CR, Weinberg SE, Gao P, Steinert EM, Piseaux R, Budinger GRS, Chandel NS
Nature 2020 Sep;585(7824):288-292. Epub 2020 Jul 8 doi: 10.1038/s41586-020-2475-6. PMID: 32641834Free PMC Article
Moch H, Cubilla AL, Humphrey PA, Reuter VE, Ulbright TM
Eur Urol 2016 Jul;70(1):93-105. Epub 2016 Feb 28 doi: 10.1016/j.eururo.2016.02.029. PMID: 26935559
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA
J Inherit Metab Dis 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. PMID: 2824920

Diagnosis

Moog S, Lussey-Lepoutre C, Favier J
Endocr Relat Cancer 2020 Dec;27(12):R451-R463. doi: 10.1530/ERC-20-0346. PMID: 33112834
Ibrahim A, Chopra S
Arch Pathol Lab Med 2020 May;144(5):655-660. Epub 2019 Jun 6 doi: 10.5858/arpa.2018-0370-RS. PMID: 31169996
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Miettinen M, Lasota J
Int J Biochem Cell Biol 2014 Aug;53:514-9. Epub 2014 Jun 2 doi: 10.1016/j.biocel.2014.05.033. PMID: 24886695Free PMC Article
DiMauro S, Moraes CT
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Therapy

Moog S, Salgues B, Braik-Djellas Y, Viel T, Balvay D, Autret G, Robidel E, Gimenez-Roqueplo AP, Tavitian B, Lussey-Lepoutre C, Favier J
Endocr Relat Cancer 2022 May 11;29(6):375-388. doi: 10.1530/ERC-22-0030. PMID: 35348472
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L
Biochim Biophys Acta 2016 Aug;1857(8):1079-1085. Epub 2016 Apr 7 doi: 10.1016/j.bbabio.2016.03.036. PMID: 27060254
Huss S, Elges S, Trautmann M, Sperveslage J, Hartmann W, Wardelmann E
Expert Rev Anticancer Ther 2015 Jun;15(6):623-8. Epub 2015 Apr 1 doi: 10.1586/14737140.2015.1032941. PMID: 25831232
Wang YM, Gu ML, Ji F
World J Gastroenterol 2015 Feb 28;21(8):2303-14. doi: 10.3748/wjg.v21.i8.2303. PMID: 25741136Free PMC Article
Littarru GP, Nakamura R, Ho L, Folkers K, Kuzell WC
Proc Natl Acad Sci U S A 1971 Oct;68(10):2332-5. doi: 10.1073/pnas.68.10.2332. PMID: 5289867Free PMC Article

Prognosis

Yuan T, Zhou T, Qian M, Du J, Liu Y, Wang J, Li Y, Fan G, Yan F, Dai X, Li X, Wu Y, Dong X, He Q, Zhu H, Yang B
Hepatology 2023 Jul 1;78(1):103-119. Epub 2022 Jul 6 doi: 10.1002/hep.32621. PMID: 35713976
Ibrahim A, Chopra S
Arch Pathol Lab Med 2020 May;144(5):655-660. Epub 2019 Jun 6 doi: 10.5858/arpa.2018-0370-RS. PMID: 31169996
Rasheed MRHA, Tarjan G
Arch Pathol Lab Med 2018 Dec;142(12):1564-1570. Epub 2018 Oct 5 doi: 10.5858/arpa.2017-0285-RS. PMID: 30289269
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Aldera AP, Govender D
J Clin Pathol 2018 Feb;71(2):95-97. Epub 2017 Oct 25 doi: 10.1136/jclinpath-2017-204677. PMID: 29070651

Clinical prediction guides

Yuan T, Zhou T, Qian M, Du J, Liu Y, Wang J, Li Y, Fan G, Yan F, Dai X, Li X, Wu Y, Dong X, He Q, Zhu H, Yang B
Hepatology 2023 Jul 1;78(1):103-119. Epub 2022 Jul 6 doi: 10.1002/hep.32621. PMID: 35713976
Jou C, Nascimento A, Codina A, Montoya J, López-Gallardo E, Emperador S, Ruiz-Pesini E, Montero R, Natera-de Benito D, Ortez CI, Marquez J, Zelaya MV, Gutierrez-Mata A, Badosa C, Carrera-García L, Expósito-Escudero J, Roldán M, Camara Y, Marti R, Ferrer I, Jimenez-Mallebrera C, Artuch R
Int J Mol Sci 2022 Sep 20;23(19) doi: 10.3390/ijms231911002. PMID: 36232299Free PMC Article
Rasheed MRHA, Tarjan G
Arch Pathol Lab Med 2018 Dec;142(12):1564-1570. Epub 2018 Oct 5 doi: 10.5858/arpa.2017-0285-RS. PMID: 30289269
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
Miettinen M, Lasota J
Int J Biochem Cell Biol 2014 Aug;53:514-9. Epub 2014 Jun 2 doi: 10.1016/j.biocel.2014.05.033. PMID: 24886695Free PMC Article

Recent systematic reviews

Ding H, Yu X, Yu Y, Lao X, Hang C, Gao K, Jia Y, Yan Z
Oncol Rep 2020 Mar;43(3):751-764. Epub 2020 Jan 17 doi: 10.3892/or.2020.7470. PMID: 32020209

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