SCIENTISTS from Singapore and Germany have made a new discovery that may unlock the secrets of youthful skin.
The international team of scientists led by Dr Bruno Reversade from the Agency for Science, Technology and Research's (A*Star) Institute of Medical Biology (IMB) discovered that mutations in the PYCR1 gene cause a rare genetic condition which results in premature skin ageing, known as 'wrinkly skin syndrome'.
These novel findings, published in the Sept 1 issue of prestigious journal Nature Genetics, provide insight into how some unexpected genes help maintain youthful skin and could lead to ways of reversing the effects of ageing and wrinkled skin.
The research project involved collaborations with over 15 hospitals and research centres in 13 countries, said A*Star in statement on Tuesday.
Using bioinformatics tools, Dr Reversade and his team analysed rare DNA samples collected from affected patients across the world who, at a young age, displayed signs of premature ageing.
They identified the PYCR1 gene on chromosome 17 of these patients to be defective and found specific mutations in the gene that led to conditions often seen in elderly people, such as loose skin, loss of bone density, hip dislocation and cataract.
They also determined that skin and bone were the two tissues most severely affected in patients. As skin and bone contain high levels of the PYCR1 protein under normal circumstances, developing therapies that could increase the activity of the protein could possibly reverse the process of ageing in affected individuals or slow it down in normal people.
'Our findings... highlight the importance of metabolism as PYCR1 is important in the synthesis of proline, a common amino acid involved in metabolism. Age-defying and anti-wrinkling treatments for common disorders related to ageing may also benefit from sustaining proline metabolism,' said Dr Reversade.
Added Professor Birgit Lane, a skin biologist and Executive Director of IMB: 'The study is a great example of scientific synergy - when clinicians and scientists from around the world come together to share their specialist skills and knowledge, they can discover new insights into complex medical conditions.'
'Rare genetic disorders often provide surprising revelations. Pooling resources and targeting research to find new ways of combating disease - and benefiting people faster - is exactly what we try to do.'