Genetic mutations that affect telomerase function or telomere maintenance result in a variety
of diseases collectively called telomeropathies. This wide spectrum of disorders, which
include dyskeratosis congenita, pulmonary fibrosis, and aplastic anemia, is characterized by
severely short telomeres, often resulting in hematopoietic stem cell failure in the most severe
cases. Recent work has focused on understanding the molecular basis of these diseases.
Mutations in the catalytic TERT and TR subunits of telomerase compromise activity, while …