Infiltrator within another gene, its action becomes devastating when it loses functionality a protein that contributes critically to the onset of Cockayne syndrome, a devastating disease characterized by developmental defects, neuro-degeneration and premature aging has been identified by a team of researchers at the University of Washington, who reports in an article published in PLoS Genetics. It has long been known that defects in certain DNA repair factors, such as the CSB protein, causing premature aging for reasons still unclear. Most cases of Cockayne syndrome are caused by recessive mutations in the CSB gene, but some people who are carriers of mutations that cause complete loss of the CSB protein are nearly healthy, a fact which indicates that the simple loss of function of the CSB protein is not the only cause of malattia.Mentre Researchers led by Alan Weiner and John Newman were studying the functionality of a normal gene for the protein CSB have found that it contains a host of transposon inaspettato.Si is tamed PiggyBac, a gene capable of jumping from one position to ' other which is installed in the CSB gene about 40 million years fa.In a result, the CSB gene began producing both the normal CSB protein is a fusion protein in which the initial part of the CSB protein was fused with the transposase (an enzyme that cuts the DNA and moves it to a different location) encoded by PiggyBac. The fusion protein continues to be produced in almost all patients with Cockayne syndrome, but this does not occur in people who despite having lost the functional CSB protein does not suffer from the disease. Evidently, the researchers note, the conservation of the fusion protein is beneficial for the human species in the presence of the CSB protein, but potentially devastating when it is absent.
ROMA 27/03/2008
FEDERICO CESAREO
