| Abstract: | Three patients who suffered from Werner's syndrome were studied to help to elucidate differences from and/or analogies to both clinical symptoms and biochemical changes in normal aging. Our patients commonly manifested graying of hair, atrophy and hyperkeratosis of the skin, cataracts and hypogonadism. Such alterations would appear to be analogous to normal aging phenomena. However, the types of cataracts, degree of skin changes and growth retardation in Werner's syndrome differed from the normal aging phenomena.Studies of endocrine functions in our patients did not show definite evidence of generalized hypopituitarism and impaired function of hormone secretion. Resistance to hormones human cholionic gonadotropin (hCG), luteinizing hormone-releasing hormone (LH-RH) and insulin was observed, suggesting a possible alteration of a diversity of proteins which may affect hormone receptors.Immunologic aspects were also studied, since the genetically programmed failure of thymic function could play a major role in the pathogenesis of aging and age-related diseases. Our results in three patients did not indicate any definite immunologic abnormalities.Culture studies showed that skin fibroblasts in Werner's syndrome exhibited more decreased potentials of in vitro clonal growth and elongation of newly synthesizing DMA as phenotypic expressions than did normal skin cells. Yet, in Werner's syndrome, cells repaired DNA damage normally. The relationship of these findings to the basic genetic defect of Werner's syndrome remains unknown. |
