Match!

Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology.

Published on Dec 1, 2015in Gene2.64
· DOI :10.1016/j.gene.2015.09.008
Lucie Carrier43
Estimated H-index: 43
(UHH: University of Hamburg),
Giulia Mearini16
Estimated H-index: 16
(UHH: University of Hamburg)
+ 1 AuthorsFriederike Cuello6
Estimated H-index: 6
(UHH: University of Hamburg)
Abstract
Abstract More than 350 individual MYPBC3 mutations have been identified in patients with inherited hypertrophic cardiomyopathy (HCM), thus representing 40–50% of all HCM mutations, making it the most frequently mutated gene in HCM. HCM is considered a disease of the sarcomere and is characterized by left ventricular hypertrophy, myocyte disarray and diastolic dysfunction. MYBPC3 encodes for the thick filament associated protein cardiac myosin-binding protein C (cMyBP-C), a signaling node in cardiac myocytes that contributes to the maintenance of sarcomeric structure and regulation of contraction and relaxation. This review aims to provide a succinct overview of how mutations in MYBPC3 are considered to affect the physiological function of cMyBP-C, thus causing the deleterious consequences observed in HCM patients. Importantly, recent advances to causally treat HCM by repairing MYBPC3 mutations by gene therapy are discussed here, providing a promising alternative to heart transplantation for patients with a fatal form of neonatal cardiomyopathy due to bi-allelic truncating MYBPC3 mutations.
Figures & Tables
  • References (152)
  • Citations (46)
References152
Newest
#1Jan Haas (Heidelberg University)H-Index: 21
#2Karen Frese (Heidelberg University)H-Index: 15
Last.Britta Vogel (Heidelberg University)H-Index: 17
view all 60 authors...
#1Chiara Calore (UNIPD: University of Padua)H-Index: 12
#2Marzia De Bortoli (UNIPD: University of Padua)H-Index: 13
Last.Paola Melacini (UNIPD: University of Padua)H-Index: 26
view all 10 authors...
#1Carolyn Y. Ho (Brigham and Women's Hospital)H-Index: 36
#2Philippe Charron (French Institute of Health and Medical Research)H-Index: 41
Last.Yigal M. Pinto (UvA: University of Amsterdam)H-Index: 65
view all 6 authors...
#1Dirk J. Duncker (Erasmus University Medical Center)H-Index: 57
#2Jeroen Bakkers (UU: Utrecht University)H-Index: 36
Last.Lucie Carrier (UHH: University of Hamburg)H-Index: 43
view all 6 authors...
#1EschenhagenThomas (UHH: University of Hamburg)H-Index: 66
#2Christine L. Mummery (LEI: Leiden University)H-Index: 78
Last.Björn C. Knollmann (Vandy: Vanderbilt University)H-Index: 35
view all 3 authors...
#1Jolanda van der Velden (VUmc: VU University Medical Center)H-Index: 40
#2Carolyn Y. Ho (Brigham and Women's Hospital)H-Index: 36
Last.Lucie Carrier (UHH: University of Hamburg)H-Index: 43
view all 6 authors...
#1Michael J. Previs (UVM: University of Vermont)H-Index: 14
#2Benjamin L. Prosser (UPenn: University of Pennsylvania)H-Index: 17
Last.David M. Warshaw (UVM: University of Vermont)H-Index: 12
view all 10 authors...
Cited By46
Newest
#1Maria Rosaria Mr Pricolo (Centro Nacional de Investigaciones Cardiovasculares)
#2Elias E Herrero Galan (Centro Nacional de Investigaciones Cardiovasculares)
Last.Giulia FrissoH-Index: 13
view all 0 authors...
#1Mohammad Bakhtiar Hossain (KI: Karolinska Institutet)
#2Z Elbeck (KI: Karolinska Institutet)
Last.Ralph Knöll (KI: Karolinska Institutet)H-Index: 23
view all 4 authors...
#1Job Verdonschot (Maastricht University Medical Centre)H-Index: 4
#2Mark Hazebroek (Maastricht University Medical Centre)H-Index: 10
Last.Stephane Heymans (Katholieke Universiteit Leuven)H-Index: 48
view all 5 authors...
#1Diederik W.D. Kuster (LUC: Loyola University Chicago)H-Index: 9
#2Thomas L. Lynch (LUC: Loyola University Chicago)H-Index: 5
Last.Sakthivel Sadayappan (LUC: Loyola University Chicago)H-Index: 27
view all 10 authors...
#1Maksymilian Prondzynski (UHH: University of Hamburg)H-Index: 6
#2Giulia Mearini (UHH: University of Hamburg)H-Index: 16
Last.Lucie Carrier (UHH: University of Hamburg)H-Index: 43
view all 3 authors...
View next paperCardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy: Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte Dysfunction