The physicochemical properties of hair in the BIDS syndrome.
The physicochemical properties of hair from a new recessive syndrome associated with brittle hair, intellectual impairment, decreased fertility, and short stature have been studied. Electrophoresis of the SCM-structural proteins showed that the alpha polypeptides appeared normal, but the matrix component was markedly reduced. This was confirmed by finding a normal alpha X-ray diffraction pattern but a reduced 1/2 cystine content of hair and an abnormal stress-strain curve. Electron-microscopic studies revealed extreme disorganization of the filaments which most likely resulted from the absence of normal cross-linking. Nails, which contain structural proteins similar to hair, also showed the abnormality. Since the matrix component seen by electrophoresis consists of more than one component the defect cannot be explained as a single structural gene abnormality.
D000596:Amino Acids / Q000032:analysis; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders; D006197:Hair / Q000002:abnormalities* / Q000032:analysis / Q000648:ultrastructure; D006801:Humans; D007246:Infertility; D008607:Intellectual Disability; D008297:Male; D008854:Microscopy, Electron; D009262:Nails / Q000032:analysis / Q000648:ultrastructure; D011506:Proteins / Q000032:analysis; D013577:Syndrome
D000596:Amino Acids; D011506:Proteins