Trichothiodystrophy or TTD, as it is concisely mentioned, is a heterogeneous group of autosomal recessive disorders, characterized by abnormally sulfur deficient brittle hair and accompanied by ichthyosis and other manifestations. In TTD patients, the hair appear dry, short and sparse, and the ones already existing splits longitudinally in to small fibers, the viscoelastic parameters of hair being compromised compared to controls.
Inside the range of TTD syndrome are numerous interrelated neuroectodermal disorders. The Trichothiodystrophy syndromes are invariably characterized by the defective synthesis of high-sulfur matrix proteins. Half of the patients show abnormalities in nucleotide excision repair (NER) of ultraviolet damaged DNA.
In fact, three categories are recognized on the basis of cellular responses to UV damage and the affected gene. Most patients show mutations on the two alleles of the XPD gene. In UV-sensitive TTD patients, the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair are found to be damaged. Beyond deficiency in the NER pathway, basal transcription is...
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