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Scientists Identify Genetic Mutation Linked to 'wrinkly Skin' Syndrome

by Rajashri on  September 3, 2009 at 7:03 PM Genetics & Stem Cells News   - G J E 4
 Scientists Identify Genetic Mutation Linked to 'wrinkly Skin' Syndrome
A genetic mutation responsible for premature skin aging disease has been discovered by scientists at Singapore and Germany.

They hope that the new finding would provide a new approach for age-defying, anti-wrinkling treatments.
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The researchers have revealed that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging known as "wrinkly skin syndrome."

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Lead researcher Dr Bruno Reversade of Singapore's Institute of Medical Biology (IMB) says that increasing levels of the PYCR1 protein could reverse conditions that cause fast aging and wrinkly skin.

During the study, the international team analysed DNA samples 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.

"We are excited by these findings of Bruno and colleagues, which open up new possibilities in the field of aging and skin research," Nature quoted Dr Birgit Lane, a skin biologist and Executive Director of IMB, one of the research institutes sponsored by Singapore's A*STAR (Agency for Science, Technology and Research).

The study appears in journal Nature Genetics.

Source: ANI
RAS
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