The physicochemical properties of hair in the BIDS syndrome

Am J Hum Genet. 1976 Sep;28(5):514-21.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acids / analysis
  • Female
  • Genes, Recessive
  • Growth Disorders*
  • Hair / abnormalities*
  • Hair / analysis
  • Hair / ultrastructure
  • Humans
  • Infertility
  • Intellectual Disability*
  • Male
  • Microscopy, Electron
  • Nails / analysis
  • Nails / ultrastructure
  • Proteins / analysis
  • Syndrome

Substances

  • Amino Acids
  • Proteins