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The A-type lamins - Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

  1. Author:
    Mounkes, L. C.
    Burke, B.
    Stewart, C. L.

  2. Author Address

    NCI, Lab Canc & Dev Biol, FCRDC, POB B, Frederick, MD 21702 USA. NCI, Lab Canc & Dev Biol, FCRDC, Frederick, MD 21702 USA. Univ Calgary, Dept Cell Biol & Anat, Calgary, AB, Canada. Stewart CL NCI, Lab Canc & Dev Biol, FCRDC, POB B, Frederick, MD 21702 USA.
    1. Year: 2001
  2. Journal: Trends in Cardiovascular Medicine
    1. 11
    2. 7
    3. Pages: 280-285
  4. Type of Article: Article
  1. Abstract:

    Mutations in the lamin A (LMNA) gene are associated with the tissue-specific diseases Emery-Dreifuss muscular dystrophy (EDMD), limb girdle muscular dystrophy (LGMD-1B), dilated cardiomyopathy with conduction system disease (DCM-CD), and Dunnigan's familial partial lipodystrophy (FPLD). Lamins A and C, the products of the LMNA gene, are nuclear intermediate filament proteins and are the major structural components of the lamina network that underlies and supports the nuclear envelope. Nuclear fragility and mislocalization of the nuclear envelope protein emerin are two defects induced by a lack of the A-type lamins. These observations reveal that organization and structural integrity of the nucleus are critical factors in the origins of certain dystrophic and cardiovascular diseases. (Trends Cardiovasc Med 2001; 11:280-285). (C) 2001, Elsevier Science Inc.

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