Inner nuclear membrane proteins: impact on human disease.
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.
Departments of Medicine and of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Iván
I
Méndez-López
Howard J
HJ
Worman
D000595:Amino Acid Sequence; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D009685:Nuclear Envelope / Q000378:metabolism*; D034881:Nuclear Lamina / Q000235:genetics*
D008565:Membrane Proteins