Rare genetic disorder reveals how a ‘biological clock’ drives aging

By Lauren Wilkin

Scientists have discovered a rare genetic condition which causes people to age at a much faster rate - and could help develop age reversal medicines.

Researchers believe the findings could lead to potential breakthroughs on how to slow aging and prevent diseases that occur in old age.

"It has been exciting to be able to discover a rare human genetic disorder, that helps us understand this clock's role for all our long-term health in old-age," Andrew Jackson, study lead from the Institute of Genetics and Cancer, said.

The study, led by the University of Edinburgh, identified a "biological clock" which ticks in every cell of the body.

They've proven this can contribute to the development of age-related diseases.

The "biological clocks" are marks on our DNA, known as DNA methylation. They accumulate overtime, meaning you can accurately measure a person's age by looking at these "clocks".

This DNA methylation clock "ticks" at different rates in mammals according to lifespan, going faster in animals with a shorter life expectancy.

Until now, scientists didn't know whether this biological clock directly contributes to aging, or simply measures time.

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But this study has proven it is the former - and experts say the findings could support the design of future medicines to counter diseases linked to older age, as life expectancies continue to rise across the globe.

Further studies are planned to pinpoint how DNA methylation is involved in reducing tissue renewal - and to investigate ways to reverse these changes, the research team says.

The new research, published in the journal Nature Genetics, uncovered an accelerated aging syndrome in humans – Heyn-Sproul-Jackson syndrome (HESJAS) – in which these marks occur at the same locations on DNA as in normal aging, but at a much quicker rate.

Those with HESJAS had health issues and tissue changes that usually occur in old age, including hair loss and osteoporosis.

It also found a link between an increase in these DNA marks and high cholesterol and diabetes.

Potentially most importantly, they found that as these marks accumulate on DNA, adult stem cells stopped functioning properly.

These cells are responsible for regeneration, indicating another possible cause for age-related diseases.

"By studying a rare disease in depth, our colleagues have gained new insight into the biology of human aging and identified promising directions for future rejuvenation therapies," Joris Veltman, director of the Institute of Genetics and Cancer, said.

With a deeper understanding of the processes linked to aging, it's likely that future studies can now uncover ways to slow the process and prevent the onset of many age-related diseases.