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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

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
Tong W, Wang Y, Lu Y, Ye T, Song C, Xu Y, Li M, Ding J, Duan Y, Zhang L, Gu W, Zhao X, Yang XA, Jin D
Sci Rep 2018 Mar 26;8(1):5214. doi: 10.1038/s41598-018-23503-2. PMID: 29581464Free 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
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, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979
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

Rogala J, Zhou M
Semin Diagn Pathol 2024 Jan;41(1):32-41. Epub 2023 Nov 8 doi: 10.1053/j.semdp.2023.11.001. PMID: 37981479
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
Flavahan WA, Drier Y, Johnstone SE, Hemming ML, Tarjan DR, Hegazi E, Shareef SJ, Javed NM, Raut CP, Eschle BK, Gokhale PC, Hornick JL, Sicinska ET, Demetri GD, Bernstein BE
Nature 2019 Nov;575(7781):229-233. Epub 2019 Oct 16 doi: 10.1038/s41586-019-1668-3. PMID: 31666694Free PMC Article
Tsai TH, Lee WY
Arch Pathol Lab Med 2019 May;143(5):643-647. Epub 2018 Dec 21 doi: 10.5858/arpa.2018-0024-RS. PMID: 31026220
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

Ligon JA, Sundby RT, Wedekind MF, Arnaldez FI, Del Rivero J, Wiener L, Srinivasan R, Spencer M, Carbonell A, Lei H, Shern J, Steinberg SM, Figg WD, Peer CJ, Zimmerman S, Moraly J, Xu X, Fox S, Chan K, Barbato MI, Andresson T, Taylor N, Pacak K, Killian JK, Dombi E, Linehan WM, Miettinen M, Piekarz R, Helman LJ, Meltzer P, Widemann B, Glod J
Clin Cancer Res 2023 Jan 17;29(2):341-348. doi: 10.1158/1078-0432.CCR-22-2168. PMID: 36302175Free PMC Article
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

Prognosis

Rogala J, Zhou M
Semin Diagn Pathol 2024 Jan;41(1):32-41. Epub 2023 Nov 8 doi: 10.1053/j.semdp.2023.11.001. PMID: 37981479
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
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

Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P
Cell Death Dis 2023 Dec 8;14(12):805. doi: 10.1038/s41419-023-06320-y. PMID: 38062036Free PMC Article
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T
Genes (Basel) 2023 Aug 4;14(8) doi: 10.3390/genes14081585. PMID: 37628636Free PMC Article
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
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

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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