Celebrating the legacy of two decades of Parkinson's disease research in South Africa.

Abstract

Plain language summaryCelebrating the legacy of two decades of Parkinson's disease research in South AfricaParkinson's disease (PD) has been well-studied in Western Countries, but there are far fewer studies in other parts of the world, especially in Africa. This lack of research is partly because there are insufficient neurologists in many African countries, leading to missed or incorrect diagnoses. Stigma around PD and the absence of national disease registries also make research more difficult. To help fill this gap, our team has spent the past 20 years studying PD in South Africa. We have built a collection of almost 2,000 South African participants and report our main findings here. Overall, we found only 20 PD-causing variants in our collection of 689 unrelated PD cases. Interestingly, some of these genetic findings appear to be unique to South Africans, likely due to the unique genetic composition of the country's population. Our functional studies showed how variants in genes, such as PRKN and LRRK2, disrupt the function of mitochondria. Mitochondria are tiny structures in cells that supply the energy required for the cells to function. Cells die when they do not have the necessary energy, potentially explaining why brain cells die in PD. A third part of our research focuses on curcumin, a natural compound found in turmeric known for its antioxidant and anti-inflammatory effects. Using cell models, including cells from individuals with PD, we found that curcumin can protect cells from damage caused by paraquat, a harmful chemical which has been linked to the development of PD. However, this rescue is only seen when curcumin is given before the damage occurs. This suggests that curcumin may help prevent neuronal loss in PD. In summary, our work adds to global knowledge about the genetics, disease processes, and possible treatments for PD. It also shows what a small African laboratory can achieve, despite limited personnel and resources.