Study Identifies Potential Drug Treatments for Telomere Diseases Such As Dyskeratosis Congenita, Aplastic Anemia, Liver Cirrhosis, and Pulmonary Fibrosis; Small Compounds Selectively Lengthen Telomeres in Stem Cells

Capping decades of research, a new study may offer a breakthrough in treating dyskeratosis congenita and other so-called “telomere diseases,” in which cells age prematurely. Using cells donated by patients with the disease, researchers at the Dana-Farber/Boston Children's Cancer and Blood Disorders Center identified several small molecules that appear to reverse this cellular aging process. Suneet Agarwal, MD, PhD, the study's senior investigator, hopes at least one of these compounds will advance toward clinical trials. Findings were published online on April 21, 2020 in Cell Stem Cell ( If so, it could be the first treatment for dyskeratosis congenita (DC) that could reverse all of the disease's varying effects on the body. The current treatment, bone marrow transplant, is high-risk, and only helps restore the blood system, whereas DC affects multiple organs. The article is titled “Small-Molecule PAPD5 Inhibitors Restore Telomerase Activity in Patient Stem Cells.” The compounds identified in the study restore telomeres, protective caps on the tips of our chromosomes that regulate how our cells age. Telomeres consist of repeating sequences of DNA that get shorter each time a cell divides. The body's stem cells, which retain their youthful qualities, normally make an enzyme called telomerase that builds telomeres back up again. But when telomeres can't be maintained, tissues age before their time. A spectrum of diseases can result--not just DC, but also aplastic anemia, liver cirrhosis, and pulmonary fibrosis.
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