Experimental Studies on Werner’s Syndrome Fibroblasts
The complex phenotype of Werner’s syndrome is the result of a single recessive mutation, which suggests that the product of the normal gene plays an important role in the maintenance of several types of body tissue. The mutation is pleiotropic in that it appears to accelerate changes related to ageing in these tissues. It would therefore be surprising if the identification of the nature of the biochemical defect in Werner’s syndrome did not yield important information about the origins of similar age—related changes in normal individuals. As full a characterization as possible of the biological phenotype of-Werner’s syndrome fibro¬blasts may suggest specific biochemical investigations, but on the other hand the slow and limited growth of these cells makes many such studies almost impossible. For this reason, we have obtained an SV40 transformed derivative of Werner’s syndrome fibroblasts, which must still inherit the genetic defect, even though it no longer shows in vitro ageing. We have also carried out a series of studies with diploid fibroblasts from four Werner’s syndrome patients.
KeywordsHuman Fibroblast Skin Fibroblast Population Doubling Diploid Fibroblast Biochemical Defect
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