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Abnormal enzyme activity in cultured fibroblasts

MedGen UID:
1050427
Concept ID:
CN375666
Finding
HPO: HP:4000195

Definition

Concentration or activity of an enzyme is above or below the limits of normal in cultured fibroblasts. Fibroblasts are easy to grow in culture and are the main cell type involved in producing extracellular matrix. They are used as a convenient model system for measuring enzyme activity for enzymes that are not expressed in blood cells. Usually, the test is done in fibroblasts for convenience rather than for the investigation of a pathophysiology specific to fibroblasts. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal enzyme activity in cultured fibroblasts

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS
Ann Clin Transl Neurol 2022 Dec;9(12):1941-1952. Epub 2022 Nov 3 doi: 10.1002/acn3.51687. PMID: 36325744Free PMC Article
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis 2022 Jul;45(4):819-831. Epub 2022 May 5 doi: 10.1002/jimd.12503. PMID: 35403730Free PMC Article
van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
Babizhayev MA
Curr Pharm Biotechnol 2014;15(8):738-78. doi: 10.2174/1389201015666140827104918. PMID: 25158972
Poot M, Hoehn H
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Diagnosis

Norambuena A, Sun X, Wallrabe H, Cao R, Sun N, Pardo E, Shivange N, Wang DB, Post LA, Ferris HA, Hu S, Periasamy A, Bloom GS
Neurobiol Dis 2022 Jul;169:105737. Epub 2022 Apr 20 doi: 10.1016/j.nbd.2022.105737. PMID: 35452786Free PMC Article
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S
J Inherit Metab Dis 2022 Jul;45(4):819-831. Epub 2022 May 5 doi: 10.1002/jimd.12503. PMID: 35403730Free PMC Article
van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543
Schutgens RB, Wanders RJ, Heymans HS, Schram AW, Tager JM, Schrakamp G, van den Bosch H
J Inherit Metab Dis 1987;10 Suppl 1:33-45. doi: 10.1007/BF01812845. PMID: 3119940

Therapy

Yang S, Siepka SM, Cox KH, Kumar V, de Groot M, Chelliah Y, Chen J, Tu B, Takahashi JS
Proc Natl Acad Sci U S A 2019 Oct 29;116(44):22229-22236. Epub 2019 Oct 14 doi: 10.1073/pnas.1904485116. PMID: 31611405Free PMC Article
Chen H, Huang Y, Zhu X, Liu C, Yuan Y, Su H, Zhang C, Liu C, Xiong M, Qu Y, Yun P, Zheng L, Huang K
J Physiol 2019 Mar;597(6):1643-1660. Epub 2018 Dec 25 doi: 10.1113/JP277367. PMID: 30516825Free PMC Article
Shin HR, Bae HS, Kim BS, Yoon HI, Cho YD, Kim WJ, Choi KY, Lee YS, Woo KM, Baek JH, Ryoo HM
Hum Mol Genet 2018 Nov 15;27(22):3827-3839. doi: 10.1093/hmg/ddy252. PMID: 30007339Free PMC Article
Watkins D, Rosenblatt DS
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Berson EL, Schmidt SY, Shih VE
Ophthalmology 1978 Oct;85(10):1018-27. doi: 10.1016/s0161-6420(78)35588-3. PMID: 740364

Prognosis

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B
J Inherit Metab Dis 2016 Jan;39(1):115-24. Epub 2015 May 30 doi: 10.1007/s10545-015-9860-6. PMID: 26025547Free PMC Article
Bodamer OA, Giugliani R, Wood T
Mol Genet Metab 2014 Sep-Oct;113(1-2):34-41. Epub 2014 Jul 16 doi: 10.1016/j.ymgme.2014.07.013. PMID: 25127543
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P
Hum Mutat 2011 Sep;32(9):1046-52. Epub 2011 Jul 12 doi: 10.1002/humu.21534. PMID: 21560188
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. PMID: 11408337
Berson EL, Schmidt SY, Shih VE
Ophthalmology 1978 Oct;85(10):1018-27. doi: 10.1016/s0161-6420(78)35588-3. PMID: 740364

Clinical prediction guides

Lee MM, McDowell GSV, De Vivo DC, Friedman D, Berkovic SF, Spanou M, Dinopoulos A, Grand K, Sanchez-Lara PA, Allen-Sharpley M, Warman-Chardon J, Solyom A, Levade T, Schuchman EH, Bennett SAL, Dyment DA, Pearson TS
Ann Clin Transl Neurol 2022 Dec;9(12):1941-1952. Epub 2022 Nov 3 doi: 10.1002/acn3.51687. PMID: 36325744Free PMC Article
Norambuena A, Sun X, Wallrabe H, Cao R, Sun N, Pardo E, Shivange N, Wang DB, Post LA, Ferris HA, Hu S, Periasamy A, Bloom GS
Neurobiol Dis 2022 Jul;169:105737. Epub 2022 Apr 20 doi: 10.1016/j.nbd.2022.105737. PMID: 35452786Free PMC Article
Stum MG, Tadenev ALD, Seburn KL, Miers KE, Poon PP, McMaster CR, Robinson C, Kane C, Silva KA, Cliften PF, Sundberg JP, Reinholdt LG, John SWM, Burgess RW
Genetics 2021 May 17;218(1) doi: 10.1093/genetics/iyab048. PMID: 33734376Free PMC Article
Balouch B, Nagorsky H, Pham T, LaGraff JT, Chu-LaGraff Q
PLoS One 2021;16(2):e0239689. Epub 2021 Feb 9 doi: 10.1371/journal.pone.0239689. PMID: 33561134Free PMC Article
Willemsen MA, IJlst L, Steijlen PM, Rotteveel JJ, de Jong JG, van Domburg PH, Mayatepek E, Gabreëls FJ, Wanders RJ
Brain 2001 Jul;124(Pt 7):1426-37. doi: 10.1093/brain/124.7.1426. PMID: 11408337

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