Dyskeratosis Congenita: Gene Mutation of Autosomal Dominant Form

Dyskeratosis congenita is of special interest to gerontologists because it is caused by a mutation in the gene coding for the RNA component of telomerase, an enzyme that is essential for maintenance of the ends of chromosomes. The absence of telomerase should have particularly significant consequences for stem cells, certain differentiated somatic cells, and the germline, as there are normally high levels of this enzyme activity in such cell types. In the absence of telomerase, repeat units at the ends of chromosomes are lost, leading to chromosomal abnormalities and exit from the cell cycle. The absence of the enzyme in most forms of replicating somatic cells is thought to be the major factor in replicative senescence. (more…)



