A new familial syndrome with impaired function of three related peptide growth factors.
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.
Hoepffner
H J
HJ
Arbeitsgruppe Toxikogenetik, Ordinariat für Arbeitsmedizin, Hamburg, Federal Republic of Germany.
Dreyer
M
M
Reimers
U
U
Schmidt-Preuss
U
U
Koepp
H P
HP
Rüdiger
H W
HW
D000328:Adult; D004815:Epidermal Growth Factor / Q000235:genetics* / Q000378:metabolism; D066246:ErbB Receptors / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D005947:Glucose / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000235:genetics* / Q000378:metabolism; D007334:Insulin-Like Growth Factor I / Q000235:genetics* / Q000378:metabolism; D008297:Male; D010641:Phenotype; D012313:RNA / Q000096:biosynthesis; D011972:Receptor, Insulin / Q000378:metabolism; D011956:Receptors, Cell Surface / Q000378:metabolism; D017451:Receptors, Somatomedin; D013002:Somatomedins / Q000235:genetics*; D014898:Werner Syndrome / Q000235:genetics* / Q000378:metabolism
D007328:Insulin; D011956:Receptors, Cell Surface; D017451:Receptors, Somatomedin; D013002:Somatomedins; D004815:Epidermal Growth Factor; D012313:RNA; D007334:Insulin-Like Growth Factor I; D066246:ErbB Receptors; D011972:Receptor, Insulin; D005947:Glucose