Researchers in Spain have focused on the mutations that affect POT1 gene, one of the genes involved in the protection of the edges of the chromosomes, the telomeres. It is the first time that a gene with this function appears mutated in a human cancer. According to the researchers, “the biology of the telomeres has been studied for a long time as alterations to their maintenance are associated to cancer and aging”. Although some mechanisms by means of which tumorous cells alter their telomeres are known, mutations in POT1 reveal a previously-unknown route.
Each chromosome has on its edges, in the telomeres, a protective cover formed by proteins, and POT1 is the staple that locks it into place by joining it to the telomeric DNA. The mutations found on POT1 prevent this gene from carrying out its function. Therefore, the DNA of the edge of the chromosome does not have its protective cover. The research of the biochemical route that leads from these anomalies to the uncontrolled growth of B cells may shed light on key aspects of the chronic lymphatic leukemia and on cancer in general.