Abstract
Laminopathies are a heterogeneous group of rare diseases caused by genetic mutations in the LMNA gene, encoding A-type lamins. A-type lamins are nuclear envelope proteins which associate with B-type lamins to form the nuclear lamina, a meshwork underlying the inner nuclear envelope of differentiated cells. The laminopathies include lipodystrophies, progeroid phenotypes and striated muscle diseases. Research on striated muscle laminopathies in the recent years has provided novel perspectives on the role of the nuclear lamina and has shed light on the pathological consequences of altered nuclear lamina. The role of altered nicotinamide adenine dinucleotide (NAD+) in the physiopathology of striated muscle laminopathies has been recently highlighted. Here, we have summarized these findings and reviewed the current knowledge about NAD+ alteration in striated muscle laminopathies, providing potential therapeutic approaches.
Highlights
Laminopathies are a heterogeneous group of genetic disorders caused by mutations in LMNA, which encodes nuclear A-type lamins: lamins A and C
This review focuses on the role played by NAD+ metabolism in striated muscles laminopathies, from bench to bedside
We recently demonstrated that the NAD+ content was significantly decreased in the heart of Lmnap.H222P/H222P mice, a model that recapitulates cardiomyopathy associated with
Summary
Laminopathies are a heterogeneous group of genetic disorders caused by mutations in LMNA, which encodes nuclear A-type lamins: lamins A and C. Lamins A and C, which are members of the intermediate filaments family, dimerize and further assemble to form the nuclear lamina [2], a fibrillar meshwork contributing to cellular functions such as mechanotransduction, regulation of gene transcription and chromatin structure [3]. These intermediate filament proteins, the only intermediate filaments located within the nucleus, are expressed in most tissues. The discovery that several genetic diseases are caused by mutations in the LMNA gene has resulted in a reassessment of the function of the nuclear lamina
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
