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Elevated mitochondrial citrate synthase synthase activity

MedGen UID:
1054552
Concept ID:
CN376708
Finding
HPO: HP:6000195

Definition

Activity of the enzyme mitochondrial citrate synthase (EC:2.3.3.1) in muscle tissue is above the upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated mitochondrial citrate synthase synthase activity

Professional guidelines

PubMed

Christensen IB, Blom I, Dohlmann TL, Finger F, Helge JW, Gerhart-Hines Z, Dela F, Larsen S
J Clin Endocrinol Metab 2023 Sep 18;108(10):e916-e922. doi: 10.1210/clinem/dgad259. PMID: 37161534

Recent clinical studies

Etiology

Stovickova L, Hansikova H, Hanzalova J, Musova Z, Semjonov V, Stovicek P, Hadzic H, Novotna L, Simcik M, Strnad P, Serbina A, Karamazovova S, Schwabova Paulasova J, Vyhnalek M, Krsek P, Zumrova A
J Neurol 2024 Jun;271(6):3439-3454. Epub 2024 Mar 23 doi: 10.1007/s00415-024-12223-5. PMID: 38520521Free PMC Article
Christensen IB, Blom I, Dohlmann TL, Finger F, Helge JW, Gerhart-Hines Z, Dela F, Larsen S
J Clin Endocrinol Metab 2023 Sep 18;108(10):e916-e922. doi: 10.1210/clinem/dgad259. PMID: 37161534
Tsai HH, Chang SC, Chou CH, Weng TP, Hsu CC, Wang JS
Sci Rep 2016 Oct 12;6:35170. doi: 10.1038/srep35170. PMID: 27731374Free PMC Article
Sheeran FL, Pepe S
Am J Physiol Endocrinol Metab 2016 Aug 1;311(2):E449-60. Epub 2016 Jul 12 doi: 10.1152/ajpendo.00127.2016. PMID: 27406740
Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM
Mol Genet Metab 2013 Jan;108(1):40-50. Epub 2012 Dec 3 doi: 10.1016/j.ymgme.2012.11.282. PMID: 23266196

Diagnosis

Stovickova L, Hansikova H, Hanzalova J, Musova Z, Semjonov V, Stovicek P, Hadzic H, Novotna L, Simcik M, Strnad P, Serbina A, Karamazovova S, Schwabova Paulasova J, Vyhnalek M, Krsek P, Zumrova A
J Neurol 2024 Jun;271(6):3439-3454. Epub 2024 Mar 23 doi: 10.1007/s00415-024-12223-5. PMID: 38520521Free PMC Article
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D
Circulation 2021 Nov 23;144(21):1714-1731. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.121.053575. PMID: 34672721Free PMC Article
Porter C, Herndon DN, Børsheim E, Chao T, Reidy PT, Borack MS, Rasmussen BB, Chondronikola M, Saraf MK, Sidossis LS
Am J Physiol Endocrinol Metab 2014 Sep 1;307(5):E462-7. Epub 2014 Jul 29 doi: 10.1152/ajpendo.00206.2014. PMID: 25074988Free PMC Article
Selak MA, de Chadarevian JP, Melvin JJ, Grover WD, Salganicoff L, Kaye EM
Pediatr Neurol 2000 Jul;23(1):54-7. doi: 10.1016/s0887-8994(00)00145-4. PMID: 10963971
Belfiore F, Iannello S
Mol Genet Metab 1998 Oct;65(2):121-8. doi: 10.1006/mgme.1998.2727. PMID: 9787104

Therapy

Zhang X, Wang N, Fu P, An Y, Sun F, Wang C, Han X, Zhang Y, Yu X, Liu Y
J Cardiovasc Pharmacol 2023 Nov 1;82(5):375-388. doi: 10.1097/FJC.0000000000001474. PMID: 37643027Free PMC Article
Christensen IB, Blom I, Dohlmann TL, Finger F, Helge JW, Gerhart-Hines Z, Dela F, Larsen S
J Clin Endocrinol Metab 2023 Sep 18;108(10):e916-e922. doi: 10.1210/clinem/dgad259. PMID: 37161534
Dejmek J, Kohoutová M, Kripnerová M, Čedíková M, Tůma Z, Babuška V, Bolek L, Kuncová J
Physiol Res 2018 Dec 31;67(Suppl 4):S633-S643. doi: 10.33549/physiolres.934046. PMID: 30607970
Edge J, Mündel T, Pilegaard H, Hawke E, Leikis M, Lopez-Villalobos N, Oliveira RS, Bishop DJ
PLoS One 2015;10(12):e0141317. Epub 2015 Dec 10 doi: 10.1371/journal.pone.0141317. PMID: 26656911Free PMC Article
Timmers S, Konings E, Bilet L, Houtkooper RH, van de Weijer T, Goossens GH, Hoeks J, van der Krieken S, Ryu D, Kersten S, Moonen-Kornips E, Hesselink MKC, Kunz I, Schrauwen-Hinderling VB, Blaak E, Auwerx J, Schrauwen P
Cell Metab 2011 Nov 2;14(5):612-22. doi: 10.1016/j.cmet.2011.10.002. PMID: 22055504Free PMC Article

Prognosis

Reutzel M, Grewal R, Dilberger B, Silaidos C, Joppe A, Eckert GP
Oxid Med Cell Longev 2020;2020:4060769. Epub 2020 Apr 13 doi: 10.1155/2020/4060769. PMID: 32377297Free PMC Article
Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K
Brain Dev 2015 Aug;37(7):719-24. Epub 2014 Nov 18 doi: 10.1016/j.braindev.2014.10.013. PMID: 25466440
Porter C, Herndon DN, Børsheim E, Chao T, Reidy PT, Borack MS, Rasmussen BB, Chondronikola M, Saraf MK, Sidossis LS
Am J Physiol Endocrinol Metab 2014 Sep 1;307(5):E462-7. Epub 2014 Jul 29 doi: 10.1152/ajpendo.00206.2014. PMID: 25074988Free PMC Article
Murias JM, Kowalchuk JM, Ritchie D, Hepple RT, Doherty TJ, Paterson DH
J Gerontol A Biol Sci Med Sci 2011 Sep;66(9):957-64. Epub 2011 Jun 29 doi: 10.1093/gerona/glr096. PMID: 21715648
Wang J, Wang Y, Wong C
Cell Prolif 2010 Apr;43(2):103-13. doi: 10.1111/j.1365-2184.2009.00659.x. PMID: 20447055Free PMC Article

Clinical prediction guides

Stovickova L, Hansikova H, Hanzalova J, Musova Z, Semjonov V, Stovicek P, Hadzic H, Novotna L, Simcik M, Strnad P, Serbina A, Karamazovova S, Schwabova Paulasova J, Vyhnalek M, Krsek P, Zumrova A
J Neurol 2024 Jun;271(6):3439-3454. Epub 2024 Mar 23 doi: 10.1007/s00415-024-12223-5. PMID: 38520521Free PMC Article
Gyllenhammer LE, Picard M, McGill MA, Boyle KE, Vawter MP, Rasmussen JM, Buss C, Entringer S, Wadhwa PD
Psychoneuroendocrinology 2022 Oct;144:105868. Epub 2022 Jul 15 doi: 10.1016/j.psyneuen.2022.105868. PMID: 35853381Free PMC Article
Mallard J, Hucteau E, Charles AL, Bender L, Baeza C, Pélissie M, Trensz P, Pflumio C, Kalish-Weindling M, Gény B, Schott R, Favret F, Pivot X, Hureau TJ, Pagano AF
J Cachexia Sarcopenia Muscle 2022 Jun;13(3):1896-1907. Epub 2022 Apr 4 doi: 10.1002/jcsm.12991. PMID: 35373507Free PMC Article
Kolar D, Kleteckova L, Skalova K, Brozka H, Kalous M, Vales K
Neurotoxicology 2022 May;90:35-47. Epub 2022 Feb 24 doi: 10.1016/j.neuro.2022.02.005. PMID: 35219782
Bouzidi MF, Enjolras N, Carrier H, Vial C, Lopez-Mediavilla C, Burt-Pichat B, Couthon F, Godinot C
Biochim Biophys Acta 1996 Jun 7;1316(2):61-70. doi: 10.1016/0925-4439(95)00126-3. PMID: 8672552

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