2,316
Views
0
CrossRef citations to date
0
Altmetric
Research Paper

Fibrillin-1 mutation contributes to Marfan syndrome by inhibiting Cav1.2-mediated cell proliferation in vascular smooth muscle cells

ORCID Icon, , , , , , & show all
Article: 2192377 | Received 31 Dec 2022, Accepted 14 Mar 2023, Published online: 27 Mar 2023

References

  • von Kodolitsch Y, Robinson PN. Marfan syndrome: an update of genetics, medical and surgical management. Heart. 2007 Jun;93(6):755–13. PubMed PMID: 17502658; PubMed Central PMCID: PMCPMC1955191. DOI:10.1136/hrt.2006.098798.
  • Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J Am Coll Cardiol. 2010 Mar 2;55(9):841–857. PubMed PMID: 20185035.
  • Siegert AM, Garcia Diaz-Barriga G, Esteve-Codina A, et al. A FBN1 3‘UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome. Biochim Biophys Acta Mol Basis Dis. 2019 Jan;1865(1):107–114. PubMed PMID: 30385411.
  • Crosas-Molist E, Meirelles T, Lopez-Luque J, et al. Vascular smooth muscle cell phenotypic changes in patients with Marfan syndrome. Arterioscler Thromb Vasc Biol. 2015 Apr;35(4):960–972. PubMed PMID: 25593132.
  • Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet. 2003 Mar;33(3):407–411. PubMed PMID: 12598898.
  • Siegert AM, Serra-Peinado C, Gutierrez-Martinez E, et al. Altered TGF-beta endocytic trafficking contributes to the increased signaling in Marfan syndrome. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):554–562. PubMed PMID: 29174139.
  • Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 2005 Mar 22;111(11):e150–7. PubMed PMID: 15781745. doi: 10.1161/01.CIR.0000155243.70456.F4
  • Tang J, Wang H, Huang X, et al. Arterial Sca1(+) vascular stem cells generate de novo smooth muscle for artery repair and regeneration. Cell Stem Cell. 2020 Jan 2;26(1):81–96 e4. PubMed PMID: 31883835.
  • Pedroza AJ, Tashima Y, Shad R, et al. Single-cell transcriptomic profiling of vascular smooth muscle cell phenotype modulation in Marfan syndrome aortic aneurysm. Arterioscler Thromb Vasc Biol. 2020 Sep;40(9):2195–2211. PubMed PMID: 32698686; PubMed Central PMCID: PMCPMC7484233.
  • [Corrigendum]. Transcriptome sequencing of human breast cancer reveals aberrant intronic transcription in amplicons and dysregulation of alternative splicing with major therapeutic implications. Int J Oncol. 2017 Sep;51(3):997. PubMed PMID: 28765883; PubMed Central PMCID: PMCPMC5564406. doi: 10.3892/ijo.2017.4087
  • Catterall WA. Voltage-gated calcium channels. Cold Spring Harb Perspect Biol. 2011 Aug 1;3(8):a003947. PubMed PMID: 21746798; PubMed Central PMCID: PMCPMC3140680.
  • Moosmang S, Kleppisch T, Wegener J, et al. Analysis of calcium channels by conditional mutagenesis. Handb Exp Pharmacol. 2007;178:469–490. PubMed PMID: 17203667. DOI:10.1007/978-3-540-35109-2_19.
  • Dai S, Hall DD, Hell JW. Supramolecular assemblies and localized regulation of voltage-gated ion channels. Physiol Rev. 2009 Apr;89(2):411–452. PubMed PMID: 19342611; PubMed Central PMCID: PMCPMC2733249.
  • Hofmann F, Flockerzi V, Kahl S, et al. L-type CaV1.2 calcium channels: from in vitro findings to in vivo function. Physiol Rev. 2014 Jan;94(1):303–326. PubMed PMID: 24382889.
  • Chu L, Yin H, Gao L, et al. Cardiac Na(+)-Ca(2+) exchanger 1 (ncx1h) is critical for the ventricular cardiomyocyte formation via regulating the expression levels of gata4 and hand2 in zebrafish. Sci China Life Sci. 2021 Feb;64(2):255–268. PubMed PMID: 32648190.
  • Wang Y, Mishra R, Simonson MS. Ca2+/calmodulin-dependent protein kinase II stimulates c-fos transcription and DNA synthesis by a Src-based mechanism in glomerular mesangial cells. J Am Soc Nephrol. 2003 Jan;14(1):28–36. PubMed PMID: 12506135.
  • Wang J, Wang Y, Zhang W, et al. Phenylephrine promotes cardiac fibroblast proliferation through calcineurin-NFAT pathway. Front Biosci Landmark. 2016 Jan 1;21(3):502–513. PubMed PMID: 26709790. doi: 10.2741/4405
  • Chen H, Vandorpe DH, Xie X, et al. Disruption of Cav1.2-mediated signaling is a pathway for ketamine-induced pathology. Nat Commun. 2020 Aug 28;11(1):4328. PubMed PMID: 32859919; PubMed Central PMCID: PMCPMC7455701.
  • Guo H, Golczer G, Wittner BS, et al. NR4A1 regulates expression of immediate early genes, suppressing replication stress in cancer. Mol Cell. 2021 Oct 7;81(19):4041–4058 e15. PubMed PMID: 34624217; PubMed Central PMCID: PMCPMC8549465.
  • Chen S, Li QH, Chen X, et al. SNORA70E promotes the occurrence and development of ovarian cancer through pseudouridylation modification of RAP1B and alternative splicing of PARPBP. J Cell Mol Med. 2022 Oct;26(20):5150–5164. PubMed PMID: 36056690; PubMed Central PMCID: PMCPMC9575132.
  • Cao C, Ren Y, Barnett AS, et al. Increased Ca2+ signaling through CaV1.2 promotes bone formation and prevents estrogen deficiency-induced bone loss. JCI Insight. 2017 Nov 16:2(22): DOI:10.1172/jci.insight.95512 PubMed PMID: 29202453; PubMed Central PMCID: PMCPMC5752375.
  • Kalluri R, Han Y. Targeting TGF-beta and the extracellular matrix in Marfan’s syndrome. Dev Cell. 2008 Jul;15(1):1–2. PubMed PMID: 18606132.
  • Akhter N, Dar SA, Haque S, et al. Crosstalk of Cyclin-dependent kinase inhibitor 1A (CDKN1A) gene polymorphism with p53 and CCND1 polymorphism in breast cancer. Eur Rev Med Pharmacol Sci. 2021 Jun;25(12):4258–4273. PubMed PMID: 34227093. DOI:10.26355/eurrev_202106_26131.
  • Calmodulin is required for cell-cycle progression during.Pdf.
  • Kahl CR, Means AR. Calcineurin regulates cyclin D1 accumulation in growth-stimulated fibroblasts. Mol Biol Cell. 2004 Apr;15(4):1833–1842. PubMed PMID: 14767060; PubMed Central PMCID: PMCPMC379279.
  • Manda KR, Tripathi P, Hsi AC, et al. Nfatc1 promotes prostate tumorigenesis and overcomes PTEN loss-induced senescence. Oncogene. 2016 Jun23;35(25):3282–3292. PubMed PMID: 26477312; PubMed Central PMCID: PMCPMC5012433.
  • Liu Z, Sheng J, Peng G, et al. TGF-beta1 regulation of P-JNK and L-Type calcium channel Cav1.2 in cortical neurons. J Mol Neurosci. 2018 Mar;64(3):374–384. PubMed PMID: 29423686.
  • ten Dijke P, Arthur HM. Extracellular control of TGFbeta signalling in vascular development and disease. Nat Rev Mol Cell Biol. 2007 Nov;8(11):857–869. PubMed PMID: 17895899.
  • Fukuda N, Hu WY, Kubo A, et al. Angiotensin II upregulates transforming growth factor-beta type I receptor on rat vascular smooth muscle cells. Am J Hypertens. 2000 Feb;13(2):191–198. PubMed PMID: 10701820.
  • Groenink M, den Hartog AW, Franken R, et al. Losartan reduces aortic dilatation rate in adults with Marfan syndrome: a randomized controlled trial. Eur Heart J. 2013 Dec;34(45):3491–3500. PubMed PMID: 23999449.
  • Wang Y, Ait-Oufella H, Herbin O, et al. TGF-beta activity protects against inflammatory aortic aneurysm progression and complications in angiotensin II-infused mice. J Clin Invest. 2010 Feb;120(2):422–432. PubMed PMID: 20101093; PubMed Central PMCID: PMCPMC2810071.
  • Horbelt D, Guo G, Robinson PN, et al. Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. J Cell Sci. 2010 Dec 15;123(Pt 24):4340–4350. PubMed PMID: 21098638.
  • Bkaily G, Abou Abdallah N, Simon Y, et al. Vascular smooth muscle remodeling in health and disease. Can J Physiol Pharmacol. 2021 Feb;99(2):171–178. PubMed PMID: 32853532.
  • Oz M, Frank GB. Effect of the calcium channel agonist Bay K8644 on mechanical and electrical responses of frog skeletal muscle. Can J Physiol Pharmacol. 1994 Oct;72(10):1220–1225. PubMed PMID: 7533650.
  • Chen YL, Ren Y, Xu W, et al. Constriction of retinal venules to endothelin-1: obligatory roles of ETA receptors, extracellular calcium entry, and Rho kinase. Invest Ophthalmol Vis Sci. 2018 Oct 1;59(12):5167–5175. PubMed PMID: 30372743; PubMed Central PMCID: PMCPMC6203175.