Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.
Autophagy
Cardiomyocytes
Cardiomyopathy
Fibrosis
Induced pluripotent stem cell
MRI
Journal
Biological research
ISSN: 0717-6287
Titre abrégé: Biol Res
Pays: England
ID NLM: 9308271
Informations de publication
Date de publication:
23 Jun 2023
23 Jun 2023
Historique:
received:
16
11
2022
accepted:
17
05
2023
medline:
26
6
2023
pubmed:
23
6
2023
entrez:
22
6
2023
Statut:
epublish
Résumé
Dilated cardiomyopathy (DCM) is a primary myocardial disease, leading to heart failure and excessive risk of sudden cardiac death with rather poorly understood pathophysiology. In 2015, Parvari's group identified a recessive mutation in the autophagy regulator, PLEKHM2 gene, in a family with severe recessive DCM and left ventricular non-compaction (LVNC). Fibroblasts isolated from these patients exhibited abnormal subcellular distribution of endosomes, Golgi apparatus, lysosomes and had impaired autophagy flux. To better understand the effect of mutated PLEKHM2 on cardiac tissue, we generated and characterized induced pluripotent stem cells-derived cardiomyocytes (iPSC-CMs) from two patients and a healthy control from the same family. The patient iPSC-CMs showed low expression levels of genes encoding for contractile functional proteins (α and β-myosin heavy chains and 2v and 2a-myosin light chains), structural proteins integral to heart contraction (Troponin C, T and I) and proteins participating in Ca
Identifiants
pubmed: 37349842
doi: 10.1186/s40659-023-00442-5
pii: 10.1186/s40659-023-00442-5
pmc: PMC10288792
doi:
Substances chimiques
Calcium
SY7Q814VUP
SKIP enzyme, human
EC 3.1.3.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
34Subventions
Organisme : Jordan Baruch Stem Cell Fund
ID : ISF 145/16
Informations de copyright
© 2023. The Author(s).
Références
Circulation. 2008 Jun 3;117(22):2893-901
pubmed: 18506004
PLoS Genet. 2020 Sep 14;16(9):e1009000
pubmed: 32925938
N Engl J Med. 2010 Oct 7;363(15):1397-409
pubmed: 20660394
Eur J Heart Fail. 2012 Aug;14(8):803-69
pubmed: 22828712
J Clin Invest. 2013 Jan;123(1):19-26
pubmed: 23281406
Circ Res. 2009 Jan 30;104(2):150-8
pubmed: 19179668
Circulation. 2013 Oct 15;128(16):e240-327
pubmed: 23741058
Stem Cell Reports. 2015 Mar 10;4(3):340-7
pubmed: 25733020
Exp Cell Res. 2014 Feb 15;321(2):178-89
pubmed: 24370574
J Mol Cell Cardiol. 2017 Dec;113:9-21
pubmed: 28941705
J Clin Invest. 2015 Jan;125(1):55-64
pubmed: 25654551
J Cell Sci. 2017 May 1;130(9):1637-1651
pubmed: 28302907
J Am Coll Cardiol. 2009 Jan 20;53(3):284-91
pubmed: 19147047
Autophagy. 2010 Jul;6(5):600-6
pubmed: 20431347
Hum Pathol. 2005 Apr;36(4):403-11
pubmed: 15892002
Stem Cell Reports. 2016 Sep 13;7(3):355-369
pubmed: 27569062
Mol Genet Metab. 2006 May;88(1):71-7
pubmed: 16427346
Annu Rev Physiol. 2018 Feb 10;80:1-26
pubmed: 29068766
Dev Cell. 2011 Dec 13;21(6):1171-8
pubmed: 22172677
Sci Transl Med. 2012 Apr 18;4(130):130ra47
pubmed: 22517884
J Am Coll Cardiol. 1999 Jul;34(1):181-90
pubmed: 10400009
Hum Mol Genet. 2015 Dec 20;24(25):7227-40
pubmed: 26464484
Methods Mol Biol. 2013;997:45-56
pubmed: 23546747
J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27
pubmed: 14662268
J Clin Invest. 2005 Mar;115(3):556-64
pubmed: 15765137
Int J Cardiol. 2016 Oct 15;221:498-504
pubmed: 27414729
Cell. 2008 Jan 25;132(2):286-98
pubmed: 18243103
Cardiology. 2002;98(3):162-4
pubmed: 12417817
Adv Drug Deliv Rev. 2016 Jan 15;96:110-34
pubmed: 25956564
Circ Res. 2014 Jan 31;114(3):511-23
pubmed: 24481842
Autophagy. 2008 Feb;4(2):151-75
pubmed: 18188003
Cell. 2016 Dec 15;167(7):1734-1749.e22
pubmed: 27984724
J Cell Biol. 2011 Aug 8;194(3):355-65
pubmed: 21825071
Nat Cell Biol. 2011 Apr;13(4):453-60
pubmed: 21394080
J Cell Biol. 1995 Feb;128(3):341-54
pubmed: 7844148
Mol Genet Metab. 2004 Jun;82(2):162-6
pubmed: 15172004
Am J Cardiol. 2004 Jul 1;94(1):50-4
pubmed: 15219508
Cell Biol Toxicol. 2017 Apr;33(2):145-168
pubmed: 27957648
Annu Rev Biochem. 2016 Jun 2;85:685-713
pubmed: 26865532
Circulation. 2001 Mar 6;103(9):1256-63
pubmed: 11238270
J Am Coll Cardiol. 1998 Jan;31(1):186-94
pubmed: 9426039
Mol Genet Metab. 2002 Dec;77(4):319-25
pubmed: 12468278
Cardiovasc Res. 2012 Feb 1;93(2):320-9
pubmed: 22135164
Nat Protoc. 2013 Jan;8(1):162-75
pubmed: 23257984
Methods Enzymol. 2009;453:325-42
pubmed: 19216914
Am J Cardiol. 2006 Sep 15;98(6):821-4
pubmed: 16950194
Cell Physiol Biochem. 2011;28(4):579-92
pubmed: 22178870
J Cell Biol. 2017 Apr 3;216(4):1051-1070
pubmed: 28325809
Circ Res. 2018 Feb 2;122(3):e5-e16
pubmed: 29282212
Heart Fail Rev. 2010 Sep;15(5):423-30
pubmed: 20383579
Stem Cell Reports. 2014 Oct 14;3(4):594-605
pubmed: 25358788
Stem Cells. 2015 Jul;33(7):2343-50
pubmed: 25826782
Nano Lett. 2018 Nov 14;18(11):7314-7322
pubmed: 30380888
Heart. 2000 Dec;84(6):659-67
pubmed: 11083750
Circ Res. 2011 Sep 30;109(8):841-7
pubmed: 21799153
Mol Cell. 2015 Jan 8;57(1):39-54
pubmed: 25498145
Cell Host Microbe. 2015 Jan 14;17(1):58-71
pubmed: 25500191
Stem Cell Res. 2021 May;53:102382
pubmed: 34088011
Biochim Biophys Acta. 2016 Jul;1863(7 Pt B):1829-38
pubmed: 26578113
Small GTPases. 2013 Apr-Jun;4(2):106-9
pubmed: 23392104
Proc Natl Acad Sci U S A. 2012 Jul 3;109(27):E1848-57
pubmed: 22645348
J Clin Med. 2021 Mar 09;10(5):
pubmed: 33803477