Scientists have discovered a rare genetic disease that causes people to age at a faster rate, providing new insights into the aging process.
This study shows for the first time how the “biological clock,” which exists in every cell in the body, contributes to age-related diseases.
Experts say the findings could support the design of future medicines to combat age-related diseases, as life expectancy continues to increase around the world.
Marks on DNA, known as DNA methylation, accumulate over time and can be used to accurately determine a person’s age. This DNA methylation clock “ticks” at different rates in mammals depending on their lifespan, faster in animals with shorter life expectancies.
However, it was not known whether this body clock directly contributes to aging or whether it simply measures time.
An international group of scientists led by the University of Edinburgh has discovered a new accelerated aging syndrome in humans, Heine-Sproul-Jackson syndrome (HESJAS). In this syndrome, methylation marks occur at the same locations on DNA as in normal aging, but at a much faster rate.
The health problems and tissue changes that occur in old age are seen much earlier in HESJAS patients, and DNA methylation has been linked to multiple age-related disease processes. These include decreased blood cell production, which is associated with increased susceptibility to infections, as well as osteoporosis and hair loss.
In mouse models of the condition, increased DNA methylation marks also led to metabolic changes associated with diabetes and high cholesterol levels.
When DNA methylation marks accumulate in mice, adult stem cells essential for tissue repair and regeneration do not function properly, potentially explaining the decline in tissue function associated with the disease.
The research team says further studies are planned to pinpoint how DNA methylation is involved in reduced tissue regeneration and investigate ways to reverse these changes.
I have long been fascinated by the ability to accurately predict a person’s age based on traces in their DNA. We are pleased that our discovery of a rare human genetic disease will help us understand the role this clock plays in long-term health in old age. This research was only possible thanks to the many generous and often co-located colleagues who contributed their diverse skills to this research. ”
Professor Andrew Jackson, Principal Investigator, Genetic Cancer Research Institute
Professor Joris Veltman, Director of the Institute of Genetics and Cancer, said: “By studying rare diseases in depth, our colleagues have gained new insights into the biology of human aging and identified promising directions for future rejuvenation therapies. This study demonstrates the power of an international collaboration that brought together 76 researchers from seven countries.”
The research was funded by the European Research Council and the UK Medical Research Council and published in the journal natural genetics: https://www.nature.com/articles/s41588-026-02633-8
The international research team also included scientists and doctors from the University of Cambridge, the Institute of Cancer Research in London, the Spanish National Research Council, the Spanish National Cancer Research Center, and hospitals in France, Norway, Mexico, New Zealand, and the United States.
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Reference magazines:
Sarni, D. Others. (2026). Progeria syndromes link DNA hypermethylation and age-related pathology. natural genetics. DOI: 10.1038/s41588-026-02633-8. https://www.nature.com/articles/s41588-026-02633-8
