Two 8-year old boys afflicted with HGPS. Contrary to the notion that HGPS is only a 'cartoon of aging', it may "serve as a legitimate model for the normal aging process in all humans."
LOS ANGELES (Gerontology Research Group), February 7, 2008:
L. Stephen Coles, M.D., Ph.D., Co-Founder of the Los Angeles Gerontology Research Group (GRG) of Physicians, Scientists, and Engineers dedicated to the quest to slow and ultimately reverse human aging within the next 20 years, has advised about this
recent research on Hutchinson-Gilford Progeria Syndrome (HGPS) and Ageing.
FOCUS ON RESEARCH:
Bruce Korf, M.D., Ph.D., Birmingham, AL
"Hutchinson–Gilford Progeria Syndrome, Aging, and the Nuclear Lamina"
NEJM, Vol. 358, No. 6, pp. 552-5 (February 7, 2008)
We are living in a time that will probably be remembered as a golden age of discovery in human genetics. Most of the recent excitement has focused on the identification of genes that contribute to the risk of common diseases, so it is easy to forget how much can be learned from the study of rare "single-gene" disorders.....
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"Phenotype and Course of Hutchinson–Gilford Progeria Syndrome"
Melissa A. Merideth, M.D., M.P.H., Leslie B. Gordon, M.D., Ph.D., Sarah Clauss, M.D., Vandana Sachdev, M.D., Ann C.M. Smith, M.A., Monique B. Perry, M.D., Carmen C. Brewer, Ph.D., Christopher Zalewski, M.A., H. Jeffrey Kim, M.D., Beth Solomon, M.S., Brian P. Brooks, M.D., Ph.D., Lynn H. Gerber, M.D., Maria L. Turner, M.D., Demetrio L. Domingo, D.D.S., Thomas C. Hart, D.D.S., Jennifer Graf, M.S., James C. Reynolds, M.D., Andrea Gropman, M.D., Jack A. Yanovski, M.D., Ph.D., Marie Gerhard-Herman, M.D. Francis S. Collins, M.D., Ph.D., Elizabeth G. Nabel, M.D., Richard O. Cannon, III, M.D., William A. Gahl, M.D., Ph.D., and Wendy J. Introne, M.D.
NEJM, Vol. 358, No. 6, pp. 592-604 (February 7, 2008).
Abstract:
Background: Hutchinson–Gilford Progeria Syndrome is a rare, sporadic, autosomal-dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from Glycine GGC to Glycine GGT in codon 608 of the Lamin A (LMNA) gene, which activates a cryptic-splice donor site to produce abnormal Lamin A; this disrupts the nuclear membrane and alters transcription.
Methods: We enrolled 15 children between [1 - 17] years of age,
representing nearly half of the world's known patients with HGPS, in a comprehensive clinical protocol between [February 2005 - May 2006].
Results: Clinical investigations confirmed sclerotic skin, joint contractures, bone abnormalities, alopecia, and growth impairment in all 15 patients; cardiovascular and central nervous system sequelae were also documented. Previously unrecognized findings included prolonged prothrombin times, elevated platelet counts and serum phosphorus levels, measured reductions in joint range of motion, low-frequency conductive hearing loss, and functional oral deficits. Growth impairment was not related to inadequate nutrition, insulin unresponsiveness, of growth-hormone deficiency. Growth-hormone treatment in a few patients increased height growth by 10 percent and weight growth by 50 percent. Cardiovascular studies revealed diminishing vascular function with age, including elevated blood pressure, reduced vascular compliance, decreased ankle–brachial indexes, and adventitial thickening.
Conclusions: Establishing the detailed phenotype of HGPS is important because advances in understanding this syndrome may offer insight into normal aging. Abnormal Lamin A (Progerin) appears to accumulate with aging in normal cells.
Los Angeles Gerontology Research Group
URL: http://www.grg.org
