A new study claims to have recognized patient characteristics of unique accelerated aging syndrome. Experts from UT Southwestern Medical Center seem to have offered the most thorough account until now of the exclusive observable characteristics seen in patients with atypical progeroid syndrome (APS),
APS is known to be an extremely rare premature aging syndrome with currently only 24 reported cases of APS worldwide including the 11 evaluated in the recent UT Southwestern study. Scientists associated with the study suggest that it should not be massed together with progeria and mandibuloacral dysplasia (MAD). The latter two are also said to be identical yet more well-defined aging disorders diagnosed.
“Before this paper, APS was not recognized as a distinct disease,” commented Dr. Abhimanyu Garg, professor of internal medicine in the Center for Human Nutrition at UT Southwestern and the study’s lead author. “Although APS is extremely rare, we believe it should be a distinct entity, particularly since it seems to be less severe than either of the related disorders, and the patients show unique clinical features and metabolic abnormalities.”
“A few other centers have reported one or two patients, but our findings on 11 patients are the most extensive to date, by far,” further added Dr. Garg, chief of nutrition and metabolic diseases at UT Southwestern. “The challenge was that no one had spelled out the physical characteristics unique to the atypical syndrome.”
Earlier work appears to have revealed that APS, MAD and progeria may all be caused by mutations in the LMNA gene. Muscular dystrophies, cardiomyopathies and a low body-fat disorder called familial partial lipodystrophy are some other conditions associated with mutations in this gene.
As part of the new UT study, five males and six females were involved. Undergoing numerous diagnostic tests, most of these participants were found to e short for their ages and showed physical attributes like beaked noses, thin lips and thin, shiny skin with abnormal pigmentation. These are known to be frequent markers of accelerated aging disorder. While some of the subjects displayed gray hair at a young age, eight among the 11 had lipodystrophy, four showed diabetes and five had heart valve problems. In addition, all the female participants exhibited poorly developed breasts.
Much unlike most people diagnosed with either MAD or progeria, interestingly patients examined in the recent were observed to show only slight evidence of scalp hair loss. Also their jaws were more fully developed and only a few displayed minimal resorption of fingertips or clavicles. Apparently APS patients often live longer due to the delayed onset of other clinical symptoms. This, the experts claim could be the potential explanation for the increase in their lifespan.
These findings, Dr. Garg proposes that the variations between the clinical presentations of APS, MAD and progeria may be largely due to distinct mutations or blips in the LMNA gene linked to each disorder. He suggests the next step is commencement of clinical trials that may provide new therapies to help slow the aging process.
The findings are reported online and in the December issue of the Journal of Clinical Endocrinology and Metabolism,