Lamin A/C mutations in dilated cardiomyopathy
| Autor: | Michal Saj, Hannah A. Nicolas, Musfira Mohamed Uvaize, Rafał Płoski, Zofia T. Bilińska, Frédérique Tesson |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
Cardiomyopathy
Dilated congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Cardiomyopathy medicine.disease_cause Progeroid syndromes LMNA Internal medicine medicine Animals Humans Genetic Predisposition to Disease cardiovascular diseases Intermediate filament Genetics Mutation integumentary system business.industry Dilated cardiomyopathy General Medicine medicine.disease Lamin Type A Prognosis Phenotype Endocrinology embryonic structures cardiovascular system Cardiology Cardiology and Cardiovascular Medicine business Lamin |
| Zdroj: | Cardiology journal. 21(4) |
| ISSN: | 1898-018X |
| Popis: | Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure and heart transplant. Mutations in 60 genes have been associated with DCM. Approximately 6% of all DCM cases are caused by mutations in the lamin A/C gene (LMNA). LMNA codes for type-V intermediate filaments that support the structure of the nuclear membrane and are involved in chromatin structure and gene expression. Most LMNA mutations result in striated muscle diseases while the rest affects the adipose tissue, peripheral nervous system, multiple tissues or lead to progeroid syndromes/overlapping syndromes. Patients with LMNA mutations exhibit a variety of cellular and physiological phenotypes. This paper explores the current phenotypes observed in LMNA-caused DCM, the results and implications of the cellular and animal models of DCM and the prevailing theories on the pathogenesis of laminopathies. |
| Databáze: | OpenAIRE |
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