Werner's syndrome: An underdiagnosed disorder resembling premature aging

Werner's syndrome is an inheritable segmental progeroid syndrome manifested by a premature senescent appearance. Juvenile cataract formation and cutaneous atrophy are the most common features of this disease. Differences in geographic prevalence of this disease appear to reflect varying levels of consanguinity. The diagnosis of this disorder is made less frequently than the frequency suggested by genetic analyses. Our review reveals that there is an inverse relationship between age and in vitro replicative lifespan of cultured fibroblasts from these patients. Greater than 91% of Werner's syndrome fibroblasts have in vitro lifespans of less than 20 cumulative cell population doublings while only 4.8% of control fibroblasts have in vitro replicative lifespans so reduced. Cultured fibroblasts from other segmental progeroid syndromes are not nearly as reduced in replicative lifespans. Urinary hylauronir acid is increased in Werner's syndrome, and may be useful, along with fibroblast culturing, as a potential diagnostic aid for this unique and apparently underdiagnosed disorder. © 1984 American Aging Association, Inc.

Duke Scholars

Author Harvey Jay Cohen Medicine, Geriatrics