Personalized Medicine Approach in a DCM Patient with
familial DCM
individualized therapy
lamin mutation
laminopathy
mTOR inhibitor
Journal
Journal of personalized medicine
ISSN: 2075-4426
Titre abrégé: J Pers Med
Pays: Switzerland
ID NLM: 101602269
Informations de publication
Date de publication:
15 Jul 2022
15 Jul 2022
Historique:
received:
22
06
2022
revised:
10
07
2022
accepted:
13
07
2022
entrez:
27
7
2022
pubmed:
28
7
2022
medline:
28
7
2022
Statut:
epublish
Résumé
Mutations in the We report a 47-year-old DCM patient with severely impaired left ventricular ejection fraction and NYHA functional class IV despite optimal heart failure treatment. Whole-exome sequencing revealed an LMNA E161K missense mutation as the pathogenetic cause for DCM in this patient. We generated a patient-specific Beta adrenergic stimulation of cardiomyocytes derived from We have successfully generated the first in vitro model to recapitulate a patient-specific LMNA E161K mutation which leads to a severe form of DCM. The model may serve as a template for individualized and specific treatment of heart failure.
Sections du résumé
BACKGROUND
BACKGROUND
Mutations in the
METHODS
METHODS
We report a 47-year-old DCM patient with severely impaired left ventricular ejection fraction and NYHA functional class IV despite optimal heart failure treatment. Whole-exome sequencing revealed an LMNA E161K missense mutation as the pathogenetic cause for DCM in this patient. We generated a patient-specific
RESULTS
RESULTS
Beta adrenergic stimulation of cardiomyocytes derived from
CONCLUSION
CONCLUSIONS
We have successfully generated the first in vitro model to recapitulate a patient-specific LMNA E161K mutation which leads to a severe form of DCM. The model may serve as a template for individualized and specific treatment of heart failure.
Identifiants
pubmed: 35887646
pii: jpm12071149
doi: 10.3390/jpm12071149
pmc: PMC9323361
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Curr Protoc Stem Cell Biol. 2010 Dec;Chapter 1:Unit 1F.11
pubmed: 21125557
J Mol Cell Cardiol. 2009 Sep;47(3):352-8
pubmed: 19406126
PLoS One. 2010 Dec 14;5(12):e14342
pubmed: 21179469
Biotechnol Lett. 2011 Apr;33(4):853-8
pubmed: 21165673
Mol Ther Nucleic Acids. 2020 Sep 4;21:696-711
pubmed: 32769060
Lancet. 2017 Jul 22;390(10092):400-414
pubmed: 28190577
Sci Transl Med. 2012 Jul 25;4(144):144ra102
pubmed: 22837537
Front Cell Dev Biol. 2021 Jan 28;9:638542
pubmed: 33585493
Curr Treat Options Cardiovasc Med. 2017 Mar;19(3):21
pubmed: 28299614
J Am Heart Assoc. 2019 Jun 4;8(11):e012514
pubmed: 31433726
Dev Dyn. 2016 Feb;245(2):157-65
pubmed: 26515123
Biomed Res Int. 2015;2015:163564
pubmed: 26504781
Nat Rev Genet. 2006 Dec;7(12):940-52
pubmed: 17139325
Int J Cardiol. 2018 Dec 15;273:168-176
pubmed: 30279005
Circ Res. 2002 Aug 9;91(3):189-201
pubmed: 12169644
Curr Cardiol Rep. 2018 Sep 27;20(11):121
pubmed: 30259183
Biol Cell. 2014 Oct;106(10):346-58
pubmed: 25055884
Curr Opin Cardiol. 2013 May;28(3):297-304
pubmed: 23455585
J Vis Exp. 2008 Jul 23;(17):
pubmed: 19066514
J Vis Exp. 2014 Sep 23;(91):52010
pubmed: 25286293
Cells. 2020 Aug 11;9(8):
pubmed: 32796718
Per Med. 2018 Mar;15(2):127-136
pubmed: 29714129
Int J Mol Sci. 2021 Jul 23;22(15):
pubmed: 34360639
Cell Rep. 2016 Dec 6;17(10):2542-2552
pubmed: 27926859
Methods Mol Biol. 2011;690:151-62
pubmed: 21042991
J Am Coll Cardiol. 2005 Apr 5;45(7):969-81
pubmed: 15808750
Heart. 2018 Mar;104(6):468-479
pubmed: 29175975
Nature. 2019 Aug;572(7769):335-340
pubmed: 31316208
J Clin Endocrinol Metab. 2007 Dec;92(12):4835-44
pubmed: 17711925
Proc Natl Acad Sci U S A. 2018 Oct 2;115(40):10100-10105
pubmed: 30224463