2026-05-25T05:45:54Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/147002024-09-27T08:33:18Zcom_20.500.12105_19604com_20.500.12105_2051col_20.500.12105_19605
Repisalud
author
Suay-Corredera, Carmen
author
Alegre-Cebollada, Jorge
2022-07-12T11:10:18Z
2022-07-12T11:10:18Z
2022
FEBS Lett . 2022 Mar;596(6):703-746
10.1002/1873-3468.14301
1873-3468
0014-5793
FEBS letters
35224729
http://hdl.handle.net/20.500.12105/14700
Hypertrophic cardiomyopathy (HCM), a disease characterized by cardiac muscle hypertrophy and hypercontractility, is the most frequently inherited disorder of the heart. HCM is mainly caused by variants in genes encoding proteins of the sarcomere, the basic contractile unit of cardiomyocytes. The most frequently mutated among them is MYBPC3, which encodes cardiac myosin-binding protein C (cMyBP-C), a key regulator of sarcomere contraction. In this review, we summarize clinical and genetic aspects of HCM and provide updated information on the function of the healthy and HCM sarcomere, as well as on emerging therapeutic options targeting sarcomere mechanical activity. Building on what is known about cMyBP-C activity, we examine different pathogenicity drivers by which MYBPC3 variants can cause disease, focussing on protein haploinsufficiency as a common pathomechanism also in nontruncating variants. Finally, we discuss recent evidence correlating altered cMyBP-C mechanical properties with HCM development.
eng
The mechanics of the heart: zooming in on hypertrophic cardiomyopathy and cMyBP-C.
journal article
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The mechanics of the heart FEBS Lett_2022.pdf
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Them2022.pdf.txt
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The mechanics of the heart FEBS Lett_2022.pdf.txt