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Researchers ID traits of people with rare accelerated aging syndrome
Date:12/15/2009

d familial partial lipodystrophy.

Five males and six females participated in the recent UT Southwestern study, undergoing numerous diagnostic tests. Most of the participants were short for their ages, had beaked noses, thin lips and thin, shiny skin with abnormal pigmentation, frequent markers of accelerated aging disorders. Some had gray hair at a young age. In addition, eight of the 11 participants had lipodystrophy (abnormally low body fat), four had diabetes and five exhibited heart valve problems. The female participants all had poorly developed breasts.

Unlike most individuals diagnosed with either MAD or progeria, patients evaluated in the UT Southwestern report displayed only slight evidence of scalp hair loss; their jaws were more fully developed; and only a few showed minimal resorption of fingertips or clavicles. The onset of other clinical symptoms also seemed to be delayed, potentially explaining why those with APS often live longer.

Dr. Garg said the findings suggest that the variations between the clinical presentations of APS, MAD and progeria are largely due to unique mutations or blips in the LMNA gene linked to each disorder. "Based on our findings, we believe that using a one-size-fits-all approach to therapy will probably not work," he said.

The next step, Dr. Garg said, is to begin clinical trials to find novel therapies that may help slow the aging process.


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Contact: Kristen Holland Shear
kristen.hollandshear@utsouthwestern.edu
214-648-3404
UT Southwestern Medical Center
Source:Eurekalert

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