Conflict of interest: The author is an inventor on a pending PCT patent application on methods for treating and/or preventing cardiomyopathies by ERK and JNK inhibition, filed by the Trustees of Columbia University in the City of New York.
Nuclear lamins and laminopathies†
Article first published online: 14 NOV 2011
Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
The Journal of Pathology
Special Issue: The Cell Biology of Disease
Volume 226, Issue 2, pages 316–325, January 2012
How to Cite
Worman, H. J. (2012), Nuclear lamins and laminopathies. J. Pathol., 226: 316–325. doi: 10.1002/path.2999
- Issue published online: 1 DEC 2011
- Article first published online: 14 NOV 2011
- Accepted manuscript online: 26 SEP 2011 04:46AM EST
- Manuscript Accepted: 15 SEP 2011
- Manuscript Revised: 1 SEP 2011
- Manuscript Received: 22 JUL 2011
- nuclear envelope;
Nuclear lamins are intermediate filament proteins that polymerize to form the nuclear lamina on the inner aspect of the inner nuclear membrane. Long known to be essential for maintaining nuclear structure and disassembling/reassembling during mitosis in metazoans, research over the past dozen years has shown that mutations in genes encoding nuclear lamins, particularly LMNA encoding the A-type lamins, cause a broad range of diverse diseases, often referred to as laminopathies. Lamins are expressed in all mammalian somatic cells but mutations in their genes lead to relatively tissue-selective disease phenotypes in most cases. While mutations causing laminopathies have been shown to produce abnormalities in nuclear morphology, how these disease-causing mutations or resultant alterations in nuclear structure lead to pathology is only starting to be understood. Despite the incomplete understanding of pathogenic mechanisms underlying the laminopathies, basic research in cellular and small animal models has produced promising leads for treatments of these rare diseases. Copyright © 2011 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.