Other Names for this Disease
- Hutchinson Gilford progeria syndrome
- Hutchinson Gilford syndrome
How might progeria be treated?
What genes are related to Hutchinson-Gilford progeria syndrome?
- Exercise, diet modification, and medication when the lipid profile becomes abnormal
- Frequent small meals to maximize caloric intake
- Oral hydration
- Use of shoe pads for foot discomfort due to lack of body fat
- Use of sunscreen on all exposed areas of skin
- Nitroglycerin for angina
- Routine anticongestive therapy if congestive heart failure is present
- Statins for their putative effect on farnesylation inhibition
- Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur
- Routine physical and occupational therapy to help maintain range of motion in large and small joints
Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children. A free, full-text version of this study is available on PubMed and can be viewed by clicking here.
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.
- Hutchinson-Gilford progeria syndrome . Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition=hutchinsongilfordprogeriasyndrome. Accessed 3/30/2010.
- Learning About Progeria. National Human Genome Research Institute (NHGRI). 2009; http://www.genome.gov/11007255. Accessed 3/30/2010.
- Leslie B Gordon, W Ted Brown, and Francis S Collins. Hutchinson-Gilford Progeria Syndrome. GeneReviews. January 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1121/. Accessed 11/16/2012.
- Leslie B. Gordon, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Proc Natl Acad Sci. October 9, 2012; 109(41):16666–16671. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478615/. Accessed 11/19/2012.