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Causes
By Mayo Clinic staffResearchers have discovered a single gene mutation responsible for Hutchinson-Gilford progeria syndrome. The gene is known as lamin A (LMNA), which makes a protein necessary for holding the center (nucleus) of a cell together. Researchers believe the genetic mutation renders cells unstable, which appears to lead to progeria's characteristic aging process.
Unlike many genetic mutations, Hutchinson-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).
Other similar syndromes
There are, however, other progeroid syndromes that run in families. They include Wiedemann-Rautenstrauch syndrome and Werner syndrome. In Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, onset of aging begins in the womb, and signs and symptoms are apparent at birth. Werner syndrome begins in adolescence or early adulthood. These inherited progeroid syndromes also cause rapid aging and shortened life span.
- Learning about progeria. National Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=11007255. Accessed March 4, 2011.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/sec19/ch286/ch286d.html. Accessed March 4, 2011.
- Brown TW. Hutchinson-Gilford progeria syndrome. In: Pagon RA, et al., eds. GeneReviews. Seattle, Wash.: University of Washington; 1993. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hgps. Accessed March 4, 2011.
- Meredith MA, et al. Phenotype and course of Hutchinson-Gilford progeria syndrome. New England Journal of Medicine. 2008;358:592.
- Kieran MW, et al. New approaches to progeria. Pediatrics. 2007;120:834.
- Martini R. Helping children cope with chronic illness. American Academy of Child and Adolescent Psychiatry. http://www.aacap.org/cs/root/developmentor/helping_children_cope_with_chronic_illness. Accessed March 4, 2011.
- Hoecker JL (expert opinion). Mayo Clinic, Rochester, Minn. March 6, 2011.
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