Cell Death & Disease

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease (MJD), describes the most common form of dominantly inherited ataxia in many populations worldwide, including Hong Kong and mainland China. SCA3 or MJD patients often present problems with gait and balance, blurred vision, and speech difficulties. The symptoms are progressive, and patients may eventually decline into a bed-ridden state. To date, SCA3 or MJD remains an incurable disorder. Collaborating with the University of Oxford, Professor Ho Yin Edwin Chan’s research team from the School of Life Sciences of The Chinese University of Hong Kong (CUHK) recently unveiled the counteracting relationship between pre-mRNA-processing factor 19 (Prpf19) and exocyst complex component 7 (Exoc7) in controlling the degradation of disease protein and neurodegeneration of the rare hereditary ataxia. The research findings have been published in the prestigious scientific journal, Cell Death & Disease.