A new familial syndrome with impaired function of three related peptide growth factors.

Human Genetics
H J HoepffnerH W Rüdiger

Abstract

We describe a new familial syndrome in three siblings; it is biochemically characterized by a combined defect of the action of the three related peptides insulin, insulin-like growth factor I (IGF I) and epidermal growth factor (EGF). Clinically, the disease has features of Werner syndrome with lipodystrophy, scleroderma-like alterations of the skin, alterations of the skeleton and contractures of joints. In addition, one of the patients has an insulin-resistant diabetes mellitus. Studies with cultured fibroblasts obtained from skin biopsies show a markedly reduced stimulation of RNA synthesis by the three growth factors and a decreased insulin stimulation of 2-deoxy-D-glucose uptake as compared with normal controls. Receptor binding of the three peptides occurred with normal capacity and affinity. We conclude that the signal transfer of different growth factors has a common denominator at the postreceptor level.

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Citations

Mar 22, 2007·Journal of Lipid Research·Robert A HegeleBrian K Rutt
Dec 1, 1992·American Journal of Medical Genetics·E SeemanováM Dreyer

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