University of Otago researchers have helped characterise a genetic variant that enables new understanding of why some people are at risk of gout, a painful and debilitating arthritic disease.
Gout is caused by persistently elevated levels of urate in the blood, which causes severe joint pain and swelling, especially in peoples' toes, knees, elbows, wrists and fingers. It can be treated using drugs that lower urate levels. But if left untreated, it can cause serious damage to joints, kidneys and quality of life.
PhD student Sarada Ketharnathan together with Associate Professor Julia Horsfield from the Department of Pathology and Professor Tony Merriman from the Department of Biochemistry have recently characterised the genetic variant that lies not inside, but just next to a gene called PDZK1.