Stem cell research is in its infancy, but a new study led by Children’s Suneet Agarwal, MD, PhD, and George Q. Daley, MD, PhD, investigators in Children’s Stem Cell Transplantation Program, reveal these cells’ unique powers to teach us about devastating, hard-to-treat diseases – and, in this case, cancer and aging.
In Children with dyskeratosis congenita, a rare condition that leads to premature aging, genetic mutations impair a key enzyme called telomerase that builds up the tips of our chromosomes, known as telomeres. When cells aren’t able to maintain their telomeres, the chromosomes become vulnerable to all kinds of damage, and the cell “ages” more quickly and stops dividing. As a result, children with dyskeratosis congenita have bone marrow failure – they’re unable to make enough blood cells to sustain the body. This requires a bone marrow transplant – an especially punishing procedure for these children, whose other tissues and organs are also failing because of the disease.
Wanting to better understand this condition, Agarwal and Daley took skin cells from three patients. In the lab, they introduced four genes to transform the cells into pluripotent stem cells (iPS cells) – cells closely resembling embryonic stem cells. Their intention was to manipulate these iPS cells to see how dyskeratosis congenita develops at the cellular level. But to their surprise, the very process of creating the iPS cells actually reactivated telomerase, allowing telomeres to be maintained — and potentially correcting the disease.
The findings, reported by Reuters, Technology Review and USA Today, have great implications for understanding stem cells, aging and cancer and the relationships between them. For children with dyskeratosis congenita, the findings also offer the hope of developing drugs to help them build up their telomeres. Also, there’s the potential to make iPS cells from these patients, and use them to make a supply of genetically-matched blood cells – providing a safer form of bone marrow transplant.
Children’s is very excited about the potential of iPS cells and other kinds of pluripotent stem cells to develop new treatments for diseases both rare and common. Keep an eye on Thrive for much more about them.