Scientists find new gene mutation linked to skin disorder

SINGAPORE: Scientists have identified a mutation in a gene that causes patches of very thick skin to appear on the palms and soles, which is a much milder form to that of the Indonesian "Tree Man", Dede Koswara, who’s known worldwide for the bark—like growths on his body.

The team of scientists from the Institute of Medical Biology (IMB), a Biomedical Sciences Institute of the Agency for Science, Technology and Research (A*STAR), worked with hospitals and research centres from the UK, Japan and Tunisia.

Patients with this disorder have thick rough skin patches on their hands and feet, which steadily increase to form larger lesions as they grow older.

In severe cases, the lesions can be painful and debilitating.

The researchers found that this skin disorder called punctate palmoplantar keratoderma (punctuate PPK), is caused by mutations in a gene called AAGAB.

Several families in Singapore are afflicted with different types of PPKs and scientists at A*STAR have also been working with doctors at the National Skin Centre to understand the different forms of this skin disorder.

A*STAR said identification of the gene mutation will help scientists better understand the molecular basis of the disease and potentially lead to a suitable treatment.

The scientists analysed DNA samples collected from 18 families from Scotland, Ireland, Japan and Tunisia who had punctuate PPK.

They found that the AAGAB gene was expressed in skin and had a role in the control of cell division.

"Every time we find a new genetic mutation that causes a skin disorder, it helps patients and their families to demystify their condition. With scientists and doctors working towards common goals like this, we find better treatments for more and more of these rare conditions," said Professor Birgitte Lane, Executive Director of IMB.

The IMB findings were published in the online issue of Nature Genetics on 14 October.

— CNA/ck