10 September 2009

The Gene That Causes Premature Skin Aging

When someone says one looks younger than one’s real age and there is no wrinkles on the face, it makes that person so happy, and that is what every person is trying to achieve. External beauty now given so much of importance to life and it does not only involve the female gender but the male ones too. Dr. Reversade and his international research team had found out that mutations in PYCR1 gene cause the rare genetic condition that causes the premature skin aging or wrinkly skin syndrome. Dr.Reversade had identified the PYCR1 gene on chromosome 17 is defective and found specific mutations in the gene that led to the conditions in the elderly people such as loose skin, cataract and many others. The two tissues which have high levels of PYCR1 proteins are skin and bones. By developing therapies that increases the activity of the PYCR1 protein has the high chances to reverse the process aging in individuals who suffer from this genetic condition and slow the in the normal people.

They also had found out that the PYCR1 protein is located in mitochondria. They observed changes in mitochondrial morphology and cell death in tissues with individuals with PYCR1 mutations. When PYCR1 is mutated, the mitochondrial is not working properly which results in increased occurrence of cell death. this shows the significance of mitochondrial function in aging process. Dr.Reversade and his research team also highlighted that metabolism is important as PYCR1 is important in synthesis of proline, a common amino acid involved in metabolism. Age-defying and anti-wrinkling treatments for ageing also can benefit from proline metabolism. Basically, this PYCR1 gene plays an important part on our skin condition, if its mutated it can cause the genetic condition. If the scientists in future could increase the activity of the PYCR1 protein in the mitochondrial, we could be looking at youthful and healthy looking skin.

Mohana E. Ragu
42129693

Sources:
Website: http://www.sciencedaily.com/releases/2009/08/090831213214.htm
Journal Reference: Reversade et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 2009; DOI: 10.1038/ng.413
Adapted from materials provided by Agency for Science, Technology and Research (A*STAR), Singapore, via EurekAlert!, a service of AAAS.