Scientists at the University of Edinburgh have identified a rare genetic condition, Heyn-Sproul-Jackson syndrome, that causes individuals to age at a significantly faster rate than normal. The discovery, published in Nature Genetics, reveals that the condition accelerates cellular aging and triggers age-related health issues earlier in life.
Discovery of Heyn-Sproul-Jackson Syndrome
The international research team, led by Professor Andrew Jackson from the Institute of Genetics and Cancer, analyzed DNA methylation—a natural process that leaves marks on DNA over time, often referred to as the epigenetic clock. This clock measures biological age based on cell condition rather than chronological years. In Heyn-Sproul-Jackson syndrome, methylation marks appear on the same DNA sites as normal aging but at an accelerated pace.
Professor Jackson stated: “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.”
Connection to Age-Related Diseases
The study linked DNA methylation to multiple age-related disease processes, including decreased blood cell production (increasing infection susceptibility), osteoporosis, and hair loss. In mouse models, increased methylation marks led to metabolic changes associated with diabetes and high cholesterol. As marks accumulated, adult stem cells responsible for tissue repair began to fail, potentially explaining age-related tissue decline.
Professor Joris Veltman, Director of the Institute of Genetics and Cancer, remarked: “By studying a rare disease in depth, our colleagues have gained new insight into the biology of human ageing and identified promising directions for future rejuvenation therapies. This study shows the power of international collaboration, bringing together 76 researchers from seven countries.”
Future Research Directions
The research team plans further studies to understand how DNA methylation reduces tissue renewal and explore potential reversal of these changes. Professor Jackson added: “That marks on someone’s DNA can precisely predict their age has fascinated me for a long time. This study has only been possible because of very many generous, often co-located colleagues, who contributed their diverse skills to this work.”
