Pontocerebellar hypoplasia (PCH) is a group of neurological disorders that affect the development of the brain, in particular, the pons and cerebellum. Patients diagnosed with PCH usually show symptoms in early childhood, and their condition worsen with time. Many PCH patients die in infancy or childhood, due to lack of effective treatment. So far, over a dozen genes have been found to cause PCH, and many of them have a role in RNA processing. Recently, Jia Da’s research team at West China 2nd University Hospital, Sichuan University has proved that defects in cellular trafficking could also contribute to the pathogenesis of PCH.

In a paper published in PNAS, entitled Structural and functional studies of  TBC1D23 C-terminal domain provide a link between endosomal trafficking and PCH, Dr. Jia’s team focused on TBC1D23, whose homozygous mutations were recently found in some PCH patients.  Using zebrafish model, structural approach, and cellular assays, they were able to explain the important roles of the C-terminal domain of TBC1D23, which is missing in some patients due to genetic mutations. They found a strong correlation between cellular trafficking and physiological functions of TBC1D23, and suggested that defects in cellular trafficking are important causes of PCH. Dr, Jia’s study lays a foundation for exploring the causing of PCH, and helps the development of effective treatment strategies.

Dr. Jia is currently a professor in West China 2nd University Hospital and the State Key Laboratory of Biotherapy, Sichuan University. His research focuses on dissecting the molecular mechanisms of vesicle trafficking and related diseases, including neurological diseases and cancer. He has published 27 papers in Nature and other internationally-known journals, altogether cited more than 3100 times. Since he had returned to China in late 2015, he has published original research papers or scientific reviews in journals such as PNAS (2018, 2019), Nature Communications (2016), STTT (2016, 2017), JBC (2019), and Traffic (2018).