A Critical New Target for Parkinson's Disease

Linlin Ma and her collaborators are investigating a novel mutation in the KCNJ15 gene, which is genetically linked to Parkinson’s disease (PD) in multiple generations of an Australian family with Parkinson’s but is absent in a large cohort of healthy controls. Their initial findings indicate that the KCNJ15 mutation from the Australian family is a loss-of-function mutation. Supported by funding from the Michael J Fox Foundation, the Ma group has developed iPSC lines derived from the family members who have this mutation. They will convert these iPSCs into dopaminergic neurons in vitro in order to assess what effect this mutation has on neurons. In parallel, they are characterising a KCNJ15 knockout mouse model, focusing on motor phenotypes, pathology, and inflammation. KCNJ15 gene encodes an ion channel protein that is very druggable, so successful results from this project might highlight a new therapeutic target for Parkinson’s, along with readily available tools to develop and test therapeutics.