New Mechanism In Development Of Severe Inherited Disease Discovered

Scientists have shown that the genetic defect that causes Cockayne Syndrome affects a key function of the cell - the transcription of genes coding for ribosomal RNA. Cockayne Syndrome is a recessively inherited disorder that belongs to a group of diseases in which defects in one of the numerous DNA repair systems lead to non-functioning proteins and, thus, to severe health impairments. These disorders also include, for example, Xeroderma pigmentosum and a type of hereditary bowel cancer.