PHYSICOCHEMICAL PROPERTIES OF HAIR IN BIDS SYNDROME
- 1 January 1976
- journal article
- research article
- Vol. 28 (5) , 514-521
Abstract
The physicochemical properties of hair from a new [human] recessive syndrome associated with brittle hair, intellectual impairment, decreased fertility, and short stature were studied. Electrophoresis of the SCM[S-carboxymethyl]-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. EM 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 1 component the defect cannot be explained as a single structural gene abnormality.This publication has 9 references indexed in Scilit:
- "Brittle" Hair With Short Stature, Intellectual Impairment and Decreased Fertility: An Autosomal Recessive Syndrome in an Amish KindredPediatrics, 1974
- A comparative study of the physicochemical properties of human keratinized tissuesBiochimica et Biophysica Acta (BBA) - Protein Structure, 1973
- The genetics of human hair growth.1971
- A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur ContentJournal of Investigative Dermatology, 1970
- Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair.Archives of Disease in Childhood, 1968
- Isolation and characterization of a basic keratin-like protein from mammalian spermatozoaExperimental Cell Research, 1965
- DISC ELECTROPHORESIS – II METHOD AND APPLICATION TO HUMAN SERUM PROTEINS*Annals of the New York Academy of Sciences, 1964
- The Marinesco-Sjögren syndromeThe Journal of Pediatrics, 1964
- A structural basic protein as a counterpart of deoxyribonucleic acid in mammalian spermatozoaBiochimica et Biophysica Acta, 1963