دورية أكاديمية
An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
| العنوان: | An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy |
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| المؤلفون: | Bogdan-Sorin Tudurachi, Alexandra Zăvoi, Andreea Leonte, Laura Țăpoi, Carina Ureche, Silviu Gabriel Bîrgoan, Traian Chiuariu, Larisa Anghel, Rodica Radu, Radu Andy Sascău, Cristian Stătescu |
| المصدر: | International Journal of Molecular Sciences, Vol 24, Iss 13, p 10510 (2023) |
| بيانات النشر: | MDPI AG, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | hypertrophic cardiomyopathy (HCM), MYBPC3, MYH7, genetic mutations, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| الوصف: | Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a crucial structural protein of the cardiac muscle. The manifestation of HCM’s morphological, histological, and clinical symptoms is subject to the complex interplay of various determinants, including genetic mutation and environmental factors. Approximately half of MYBPC3 mutations give rise to truncated protein products, while the remaining mutations cause insertion/deletion, frameshift, or missense mutations of single amino acids. In addition, the onset of HCM may be attributed to disturbances in the protein and transcript quality control systems, namely, the ubiquitin–proteasome system and nonsense-mediated RNA dysfunctions. The aforementioned genetic modifications, which appear to be associated with unfavorable lifelong outcomes and are largely influenced by the type of mutation, exhibit a unique array of clinical manifestations ranging from asymptomatic to arrhythmic syncope and even sudden cardiac death. Although the current understanding of the MYBPC3 mutation does not comprehensively explain the varied phenotypic manifestations witnessed in patients with HCM, patients with pathogenic MYBPC3 mutations can exhibit an array of clinical manifestations ranging from asymptomatic to advanced heart failure and sudden cardiac death, leading to a higher rate of adverse clinical outcomes. This review focuses on MYBPC3 mutation and its characteristics as a prognostic determinant for disease onset and related clinical consequences in HCM. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| العلاقة: | https://www.mdpi.com/1422-0067/24/13/10510Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test |
| DOI: | 10.3390/ijms241310510 |
| الوصول الحر: | https://doaj.org/article/a5b42b2410e74ca3b4e32dd8ee757b9bTest |
| رقم الانضمام: | edsdoj.5b42b2410e74ca3b4e32dd8ee757b9b |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
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| DOI: | 10.3390/ijms241310510 |