The laminopathies: nuclear structure meets disease.
Most inherited diseases are associated with mutations in a specific gene. Sometimes, mutations in two or more different genes result in diseases with a similar phenotype. Rarely do different mutations in the same gene result in a multitude of seemingly different and unrelated diseases. In the past three years, different mutations in LMNA, the gene encoding the A-type lamins, have been shown to be associated with at least six different diseases. These diseases and at least two others caused by mutations in other proteins associated with the nuclear lamina are collectively called the laminopathies. 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 organization of the nucleus, its relation to nuclear function in different tissues and the involvement of the nuclear envelope in the development of disease.
Mounkes
Leslie
L
Cancer and Developmental Biology Laboratory, National Cancer Institute at Frederick, PO Box B, Frederick, Maryland 21702, USA.
Kozlov
Serguei
S
Burke
Brian
B
Stewart
Colin L
CL
D000818:Animals; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D034882:Lamins / Q000235:genetics / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D009685:Nuclear Envelope / Q000378:metabolism / Q000648:ultrastructure; D034881:Nuclear Lamina / Q000235:genetics / Q000378:metabolism*
D034882:Lamins; D008565:Membrane Proteins