Researchers at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center have developed a potential breakthrough treatment for dyskeratosis congenita and other telomere-related diseases, conditions in which cells age prematurely, reported the Harvard Gazette. If successful, the new treatment could be the first to reverse all the disease's devastating effects on the body.
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The current treatment option for dyskeratosis congenita consists of a bone marrow transplant. Not only is this procedure high-risk, but it also only helps restore the blood system, ignoring all other body organs affected by the disease.
The researchers identified several small compounds that seem to reverse the cellular aging process caused by dyskeratosis congenita by restoring telomeres. Telomeres are protective caps on the tips of our chromosomes responsible for controlling how our cells age, and they are made by an enzyme called telomerase.
When telomerase does not produce enough telomeres, the body's tissues begin to age prematurely, causing all kinds of telemore-related diseases such as dyskeratosis congenita. In light of this, researchers have long looked for ways to safely manipulate and preserve these telemores.
“Once human telomerase was identified, there were lots of biotech startups, lots of investment,” Suneet Agarwal, the study’s senior investigator told the Harvard Gazette. “But it didn’t pan out. There are no drugs on the market, and companies have come and gone.”
Telomerase consist of two molecules called TERT and TERC that are joined together. Both TERT and TERC are affected by a gene called PARN. In light of this, the researchers focused on an enzyme that opposes PARN and destabilizes TERC, called PAPD5.
Testing on mice
Then, they conducted tests on mice where they treated them with oral PAPD5 inhibitors. They found that these compounds boosted TERC and restored telomere length. Better yet, no adverse effects were reported in the mice.
“This provided the hope that this could become a clinical treatment,” said study leader and Harvard Medical School postdoctoral fellow Neha Nagpal.
The researchers now hope PAPD5 inhibition could provide a valid treatment for all telomere-related diseases and perhaps even aging itself. “We envision these to be a new class of oral medicines that target stem cells throughout the body,” concluded Agarwal.