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Gene mutation responsible for premature skin aging disease identified

A Singapore scientist says novel discovery suggests new approach for age-defying, anti-wrinkling treatments

A.R. | 1 september 2009

Scientists in Singapore and Germany have reported that a mutation in the PYCR1 gene causes the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome." The results have been published in Nature Genetics. The findings not only suggest that increasing levels of the PYCR1 protein could reverse conditions that cause fast aging and wrinkly skin, but also provide insight into how some unexpected genes help maintain youthful skin.

Bruno Reversade, from Singapore's Institute of Medical Biology (IMB), led this international research team, which involved collaborations with over 15 hospitals and research centres in 13 countries. Scientists analyzed DNA samples collected worldwide from patients who, at a young age, displayed signs of premature aging. 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 with wrinkly skin syndrome. Since skin and bone contain high levels of the PYCR1 protein under normal circumstances, developing therapies that could increase the activity of the PYCR1 protein could possibly reverse the process of aging in affected individuals or slow it down in normal people.

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