A team of Spanish researchers has examined a new mechanism contributing to the development of various tumors, including chronic lymphocytic leukemia.
The results, published in Nature Genetics, link cancer for the first time to errors in chromosome protection.
The work is being headed up by Carlos Lopez-Otin, with the University Oncology Institute at the University of Oviedo; Elias Campo, with the Clinic Hospital and University of Barcelona, and Maria Blasco, the director of the National Oncological Research Center.
The team examined mutations affecting POT1, one of the genes implicated in protecting the ends of chromosomes, known as the telomeres.
All the mutations found in POT1 to date prevent this gene from fulfilling its function, causing the DNA at the ends of the chromosomes to be left without protective covering.
“We’ve spent a great deal of time studying the biology of the telomeres, given that alterations in their maintenance are associated with cancer and aging,” Blasco said.
“Although mechanisms by which the tumor cells alter the telomeres are known, the mutations in POT1 reveal another route unknown until now,” she added.
Quesada said that this is the first time that a gene essential for protecting the telomeres has been found to be mutated.
He emphasized to Efe that it is known that there are tumors in other organs - the lung, for example - that present similar mutations in POT1 and “therefore, we suspect that they contribute to their development.”
“Now that this mechanism is defined, we can investigate that possibility,” he said.