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Research reveals cause of premature ageing in Down’s Syndrome patients

Research reveals cause of premature ageing in Down’s Syndrome patients

A study has uncovered the genetic cause of premature ageing in people with Down’s Syndrome, showing the process starts early in childhood and is not linked to co-morbidities of the disease.

Researchers at Queen Mary University of London identified an overdosed gene on chromosome 21, resulting in genetic or chemical overactivity of the gene and premature ageing.

Adults with Down Syndrome were shown to have an average biological age of 19.1 years older than healthy individuals. The difference was found to be solely driven by the gene T21 and remains constant throughout life.

The findings, published in eBioMedicine, may help develop strategies to slow down or control the ageing process in the future and aid an understanding of how ageing occurs.

Down’s Syndrome is a genetic condition caused by being born with an extra chromosome 21 and affects around 60 000 people in the UK. The genetic difference results in accelerated ageing, which can be expressed as reduced tissue regenerative capacity, alopecia, dry skin, delayed wound healing, chronic gum disease, osteoporosis, and senescence of the brain and immune cells.

This study was based on plasma samples from 246 people obtained from three European cohorts in France, Italy and the UK, of people with Down’s Syndrome and looked at the pattern of sugar molecules with the plasma and compared the data with healthy controls.

The researchers identified the gene for a kinase, an enzyme that speeds up chemical reactions in the body, as the leading cause of early ageing in Down Syndrome patients. The gene, known as DYRK1A, can damage the DNA-damage-repair mechanism in a cell when overdosed, causing cells to develop more breaks in their DNA and increase the fragility of their cell nuclei, resulting in premature ageing.

Professor Dean Nižetić,  from Queen Mary University, said: ‘We have uncovered that trisomic overdose of this gene (DYRK1A) is one of the main contributors to premature biological ageing in Down’s Syndrome. Further research is needed to understand how much this contributes to brain development and function and find ways of precisely inhibiting the overdose of this gene back to physiological levels.’

The researchers state that this could open exciting new possibilities for early interventions in Down Syndrome and could reverse the process of premature ageing.

Carol Boys, Chief Executive of the Down’s Syndrome Association, said: ‘We have known for a long time that people who have Down’s Syndrome experience an ageing process which appears faster than in the general population. The study hints at the prospect of effective treatments which may intervene in the accelerated cellular ageing process. This aspect of the research will be of huge interest to people who have Down’s Syndrome and their families.’


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