Chromosoma

, Volume 121, Issue 2, pp 153–167

Inner nuclear membrane proteins: impact on human disease

Mini-Review

DOI: 10.1007/s00412-012-0360-2

Cite this article as:
Méndez-López, I. & Worman, H.J. Chromosoma (2012) 121: 153. doi:10.1007/s00412-012-0360-2

Abstract

In the past decade, the inner nuclear membrane has become a focus of research on inherited diseases. A heterogeneous group of genetic disorders known as laminopathies have been described that result from mutations in genes encoding nuclear lamins, intermediate filament proteins associated with the inner nuclear membrane. Mutations in genes encoding integral inner nuclear membrane proteins, many of which bind to nuclear lamins, also cause diseases that sometimes are very similar to those caused by lamin gene mutations. The pathogenic mechanisms that underlie these diseases, which often selectively affect different tissues or organ systems despite the near-ubiquitous expression of the proteins, are only beginning to be elucidated. The unfolding story of the laminopathies provides a remarkable example of how research in basic cell biology has impacted upon medicine and human health.

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  1. 1.Departments of Medicine and of Pathology and Cell Biology, College of Physicians and SurgeonsColumbia UniversityNew YorkUSA

Personalised recommendations