Researchers have discovered a single gene mutation responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect, researchers believe the genetic mutation makes cells unstable, which appears to lead to progeria's aging process.
Unlike many genetic mutations, 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 child's genes are new (de novo).
Other similar syndromes
There are, however, other progeroid syndromes that run in families. These inherited syndromes cause rapid aging and shortened life span:
May 03, 2014
- Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, starts in the womb, with signs and symptoms of aging apparent at birth.
- Werner syndrome begins in the teen years or early adulthood, causing premature aging and conditions typical of old age, such as cataracts and diabetes.
- Dorland's Illustrated Medical Dictionary. 32nd ed. Philadelphia, Pa.: W.B. Saunders; 2011. http://dorlands.com/index.jsp. Accessed Jan. 29, 2014.
- Learning about progeria. National Human Genome Research Institute. http://www.genome.gov/11007255. Accessed Jan. 29, 2014.
- Progeria (Hutchinson-Gilford syndrome). The Merck Manuals: The Merck Manual for Health Care Professionals. http://www.merckmanuals.com/professional/pediatrics/miscellaneous_disorders_in_infants_and_children/progeria.html. Accessed Jan. 29, 2014.
- Disorders of accelerated aging. The Merck Manuals: The Merck Manual for Patients and Caregivers. http://www.merckmanuals.com/home/older_peoples_health_issues/the_aging_body/disorders_of_accelerated_aging.html. Accessed Jan. 29, 2014.
- When your child is diagnosed with chronic illness: How to cope. American Psychological Association. https://www.apa.org/helpcenter/chronic-illness-child.aspx. Accessed Jan. 29, 2014.
- Coping with chronic illness. American Academy of Pediatrics. http://www.healthychildren.org/English/health-issues/conditions/chronic/pages/Coping-With-Chronic-Illness.aspx. Accessed Jan. 29, 2014.
- Progeria. National Institutes of Health. http://report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=59&key=P#P. Accessed Jan. 29, 2014.
- Gordon LB, et al. Hutchinson-Gilford progeria syndrome. GeneReviews (Internet). http://www.ncbi.nlm.nih.gov/books/NBK1121/. Accessed Jan. 29, 2014.
- Coppede F. Premature aging syndrome. Advances in Experimental Medicine and Biology. 2012;724:317.
- Kirmani S (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 19, 2014.
- Johnson JN (expert opinion). Mayo Clinic, Rochester, Minn. Feb. 23, 2014.
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