Chromosome 17, PYCR1 gene defect cause of ageing, discovery from Singapore's A*STAR

Singaporean-German team of scientists discover way to reverse ageing effects

SINGAPORE, Sept 1 — Scientists from Singapore and Germany have made a discovery which might lead to ways of reversing the effects of ageing and wrinkled skin.

Singapore’s Agency for Science, Technology and Research (A*STAR) said the scientists discovered that mutations in the PYCR1 (Pyrroline-5-carboxylate reductase 1) gene caused a rare genetic condition which resulted in premature skin ageing, known as “wrinkly skin syndrome”.

The international team of scientists was led by Dr Bruno Reversade from A*STAR’s Institute of Medical Biology (IMB) and their findings were published in the latest issue of the prestigious journal “Nature Genetics”.

Their discovery provided an insight into how some unexpected genes helped maintain youthful skin, A*STAR said in a statement today.

It said the research project involved collaboration with over 15 hospitals and research centres in 13 countries.

The scientists used bioinformatics tools to analyse 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.

A*STAR said developing therapies that could increase the activity of the PYCR1 protein could possibly reverse the process of ageing in affected individuals or slow it down in normal people. — Bernama