Structural organization and functions of the nucleus in development, aging, and disease

In the past four years at least ten different diseases have been shown to be associated with mutations in genes whose products are associated with the nuclear envelope. Seven of these diseases, including muscular dystrophies, cardiomyopathies, lipodystrophies, and most intriguingly, Progeria, or premature aging, are caused by mutations in gene encoding the A-type lamins. The A-type lamins are the principle components that make up the nuclear lamina, a thin proteinaceous layer underlying the nuclear envelope. How different tissue specific diseases arise from unique mutations in the LMNA gene, encoding almost ubiquitously expressed nuclear proteins, are providing tantalizing insights into the structural and functional organization of the importance of nuclear architecture in embryonic development, disease, and aging. (C) 2004, Elsevier Inc

See More