Researchers study rare genetic disease called Winchester syndrome which causes severe acne, bad scarring and osteoporosis, and hope their discovery will pave the way for better acne treatments.
Acne vulgaris (acne) is the most common skin disease in the world.1 In developed countries such as Singapore, it can affect up to 80 to 90 per ceent of adolescents. Usually, the disease goes away by itself. But for many patients, acne can persist into adulthood and leave disfiguring scars, estimated to affect up to 95 per cent of patients.2 The resulting disfigurement can lead to anxiety, reduced self-esteem and, in extreme cases, depression or thoughts of suicide.3
Researchers from Agency for Science, Technology and Research鈥檚 (A*STAR) Institute of Medical Biology (IMB) in Singapore, together with colleagues from other institutes across Singapore, Europe and Australia, have discovered that acne as well as the associated scarring can result from connective tissue problems.
The starting point was to study a rare genetic disease called Winchester syndrome, which causes severe acne, bad scarring and osteoporosis. Understanding the role of genes in rare diseases can help boost understanding of common diseases. In this case, IMB Research Director, Prof Maurice Van Steensel鈥檚 team discovered that the symptoms arising from Winchester syndrome are all due to issues with an inability of cells to digest the collagen that is around them. Collagen is the protein that makes up most of the connective tissue in the skin and is also essential for bones.
The researchers then made a zebrafish model of Winchester syndrome so they are able to develop and test new drugs that may help people with acne, scars, or osteoporosis. The scientists expect to translate this new understanding into practical development of treatments soon. Their research will also direct efforts towards understanding how defective tissue remodelling relates to acne, and how it can be manipulated for therapeutic benefit.
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