Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies
| العنوان: | Role of Lamin A/C Gene Mutations in the Signaling Defects Leading to Cardiomyopathies |
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| المؤلفون: | Maria Svelto, Giuseppe Procino, Monica Carmosino, Andrea Gerbino |
| المصدر: | Frontiers in Physiology, Vol 9 (2018) Frontiers in Physiology |
| بيانات النشر: | Frontiers Media S.A., 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, Physiology, Mini Review, Cardiomyopathy, 030204 cardiovascular system & hematology, Gene mutation, Biology, lcsh:Physiology, LMNA, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Transcription factor, Ca2+ signaling, cardiac pathophysiology, lamin A/C gene, lcsh:QP1-981, nucleus, nuclear envelope, medicine.disease, Phenotype, signaling pathways, Cell biology, 030104 developmental biology, gene expression, Nuclear lamina, Signal transduction, Lamin, nuclear lamina |
| الوصف: | Nuclear lamin A/C are crucial components of the intricate protein mesh that underlies the inner nuclear membrane and confers mainly nuclear and cytosolic rigidity. However, throughout the years a number of other key physiological processes have been associated with lamins such as modulation of both genes expression and the activity of signaling mediators. To further solidify its importance in cell physiology, mutations in the lamin A/C gene (LMNA) have been associated to diverse pathological phenotypes with skeletal muscles and the heart being the most affected systems. When affected, the heart develops a wide array of phenotypes spanning from dilated cardiomyopathy with conduction defects to arrhythmogenic right ventricular cardiomyopathy. The surprising large number of cardiac phenotypes reflects the equally large number of specific mutations identified in the LMNA gene. In this review, we underlie how mutations in LMNA can impact the activity and the spatial/temporal organization of signaling mediators and transcription factors. We analyzed the ever-increasing amount of findings collected in LmnaH222P/H222P mice whose cardiomyopathy resemble the most important features of the disease in humans and a number of key evidences from other experimental models. With this mini review, we attempt to combine the newest insights regarding both the pathogenic effects of LMNA mutations in terms of signaling abnormalities and cardiac laminopathies. |
| اللغة: | English |
| DOI: | 10.3389/fphys.2018.01356/full |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1bbcceac36ac67e857adc24e95688c8 https://www.frontiersin.org/article/10.3389/fphys.2018.01356/full |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....f1bbcceac36ac67e857adc24e95688c8 |
| قاعدة البيانات: | OpenAIRE |
| DOI: | 10.3389/fphys.2018.01356/full |
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