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, Ph.D., the study’s senior investigator, hopes at least one of these compounds will advance toward clinical trials. Findings were published April 21 in the journal Cell Stem Cell.

If so, it could be the first treatment for dyskeratosis congenita, or 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.

When the researchers studied the patterns of aging-associated chemical tags called methyl groups, which serve as an indicator of a cell’s chronological age, they found that the treated cells appeared to be about 1½ to 3½ years younger on average than untreated cells from elderly people, with peaks of 3½ years (in skin cells) and 7½ years (in cells that line blood vessels).

The study found that inducing old human cells in a lab dish to briefly express these proteins rewinds many of the molecular hallmarks of aging and renders the treated cells nearly indistinguishable from their younger counterparts.

“When iPS cells are made from adult cells, they become both youthful and pluripotent,” says Vittorio Sebastiano, assistant professor of obstetrics and gynecology at Stanford University and senior author of the paper, published in Nature Communications.

“We’ve wondered for some time if it might be possible to simply rewind the aging clock without inducing pluripotency. Now we’ve found that, by tightly controlling the duration of the exposure to these protein factors, we can promote rejuvenation in multiple human cell types.”

National Eye Institute (NEI) researchers profiling epigenomic changes in light-sensing mouse photoreceptors have a clearer picture of how age-related eye diseases may be linked to age-related changes in the regulation of gene expression. The findings, published online April 21 in Cell Reports, suggest that the epigenome could be targeted as a therapeutic strategy to prevent leading causes of vision loss, such as age-related macular degeneration (AMD). NEI is part of the National Institutes of Health.

“Our study elucidates the molecular changes and biological pathways linked with aging of rod photoreceptors, light-sensing cells of the retina. Future investigations can now move forward to study how we can prevent or delay vision loss in aging and hopefully reduce the risk of associated neurodegeneration” said the study’s lead investigator, Anand Swaroop, Ph.D., senior investigator and chief of the NEI Neurobiology, Neurodegeneration, and Repair Laboratory.

Each organism is born with a genome, a library of genes that control all the body’s cellular and tissue functions. Expression of those genes—when information stored in DNA is converted into instructions for making proteins or other molecules—is modulated and maintained by the organism’s epigenome. The epigenome tags the DNA code to modify gene expression in ways that can be favorable and unfavorable for survival.