Nuclear membrane diversity: underlying tissue-specific pathologies in disease?

Curr Opin Cell Biol. 2015 Jun;34:101-12. doi: 10.1016/j.ceb.2015.06.003. Epub 2015 Jun 24.

Abstract

Human 'laminopathy' diseases result from mutations in genes encoding nuclear lamins or nuclear envelope (NE) transmembrane proteins (NETs). These diseases present a seeming paradox: the mutated proteins are widely expressed yet pathology is limited to specific tissues. New findings suggest tissue-specific pathologies arise because these widely expressed proteins act in various complexes that include tissue-specific components. Diverse mechanisms to achieve NE tissue-specificity include tissue-specific regulation of the expression, mRNA splicing, signaling, NE-localization and interactions of potentially hundreds of tissue-specific NETs. New findings suggest these NETs underlie tissue-specific NE roles in cytoskeletal mechanics, cell-cycle regulation, signaling, gene expression and genome organization. This view of the NE as 'specialized' in each cell type is important to understand the tissue-specific pathology of NE-linked diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biological Transport
  • Cytoskeleton / metabolism
  • Humans
  • Nuclear Envelope / metabolism*
  • Nuclear Proteins / metabolism
  • Organ Specificity
  • Signal Transduction / genetics

Substances

  • Nuclear Proteins