Scientists have identified a fusion protein that may contribute to Cockayne syndrome, a devastating disease characterized by developmental defects, neurodegeneration, severe wasting, and premature aging. The study is described in an article published March 21 in the open-access journal PLoS Genetics.
Genetic defects in certain DNA repair factors like the CSB protein have been known for some time to cause premature aging, but the reasons are still unclear. Most cases of Cockayne syndrome (CS) are caused by recessive mutations in the CSB gene, yet some individuals with inherited mutations that cause complete loss of the CSB protein are nearly unaffected. The implication is that CS is not caused solely by loss of functional CSB protein, but by continued expression of CSB-related proteins or protein fragments. … Continue Reading »