In patients with dyskeratosis congenita, genetic mutations impair a key enzyme, leaving the body's cells unable to maintain the tips of their chromosomes, known as telomeres. This in turn makes the chromosomes more susceptible to insults from their environment, leading to degradation of multiple tissues and much-shortened lifespans.
Now, Suneet Agarwal, MD, PhD an investigator in Children’s Stem Cell Transplantation Program, and George Q. Daley, MD, PhD, Director of Stem Cell Transplantation Program, have discovered that the process of creating iPS cells from patients with this disease actually reactivates the enzyme, allowing telomeres to be maintained — and potentially correcting the disease, without the need for gene therapy to correct the original mutation. The findings have broad-reaching implications, not just for understanding iPS cells, but also for the aging and cancer fields. And for patients with dyskeratosis congenita, they suggest the possibility of developing drugs to help maintain their telomeres, prolonging their lives, and of making blood stem cells from patients’ iPS cells to provide a safer bone marrow transplant. Read the reports from Reuters, Technology Review and USA Today.