The contrasting roles of lamin B1 in cellular aging and human disease

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The contrasting roles of lamin B1 in cellular aging and human disease
Title:
The contrasting roles of lamin B1 in cellular aging and human disease
Journal Title:
Nucleus
Keywords:
Publication Date:
01 July 2013
Citation:
Abstract:
The nuclear lamina underlies the inner nuclear membrane and consists of a proteinaceous meshwork of intermediate filaments: the A- and B-type lamins. Mutations in LMNA (encoding lamin A and C) give rise to a variety of human diseases including muscular dystrophies, cardiomyopathies and the premature aging syndrome progeria (HGPS). Duplication of the LMNB1 locus, leading to elevated levels of lamin B1, causes adult-onset autosomal dominant leukodystrophy (ADLD), a rare genetic disease that leads to demyelination in the central nervous system (CNS). Conversely, reduced levels of lamin B1 have been observed in HGPS patient derived fibroblasts, as well as fibroblasts and keratinocytes undergoing replicative senescence, suggesting that the regulation of lamin B1 is important for cellular physiology and disease. However, the causal relationship between low levels of lamin B1 and cellular senescence and its relevance in vivo remain unclear. How do elevated levels of lamin B1 cause disease and why is the CNS particularly susceptible to lamin B1 fluctuations? Here we summarize recent findings as to how perturbations of lamin B1 affect cellular physiology and discuss the implications this has on senescence, HGPS and ADLD.
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PublisherCopyrights
Funding Info:
Description:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810336/
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