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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Progeria


Other Names for this Disease

  • HGPS
  • Hutchinson Gilford progeria syndrome
  • Hutchinson Gilford syndrome
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Cause

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What genes are related to Hutchinson-Gilford progeria syndrome?

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.[1]

The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.[1]

Last updated: 3/30/2010

References
  1. Hutchinson-Gilford progeria syndrome . Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed 3/30/2010.


Other Names for this Disease
  • HGPS
  • Hutchinson Gilford progeria syndrome
  • Hutchinson Gilford syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.