Molecular pathology selected abstracts
July 2024—Telomeres are repetitive DNA sequences at the end of a chromosome that protect the chromosome from damage. They are maintained in equilibrium, as continual shortening at each round of DNA replication is counterbalanced by the de novo addition of telomere sequence repeats by telomerase. Failure to maintain the length distribution leads to short telomere syndromes that manifest as age-related degenerative diseases, such as pulmonary fibrosis, immunodeficiency, and bone marrow failure. In contrast, long telomeres can predispose people to cancer. Mutations that increase telomerase expression are one of the most common cancer-associated molecular findings.