Dr. Gabrielle Wilson and her colleagues have added yet another culprit to the list of genes that cause Parkinson’s disease. This gene, known as RAB39B, is altered in a small group of people with Parkinson’s disease. The genetic alterations somehow cause nerve cells to die, and Dr. Wilson and her colleagues want to know why.
Dr. Wilson, a researcher at Murdoch Children’s Research Institute in Australia, is one of three 2016 PMDF grant award winners and I asked her, via email, to tell us a little bit about her research and interest in movement disorders.
What research will you be pursuing with the PMDF grant?
Currently, very little is known about the normal role of RAB39B in the body. Our ongoing studies will investigate the normal function of RAB39B in cells and examine how the loss of RAB39B contributes to the development of Parkinson’s disease.
How did you and your colleagues discover the link between RAB39B and Parkinson’s disease?
The link was originally discovered based on a family in Australia, in which three members showed symptoms of intellectual disability in childhood, followed later by the motor symptoms that characterize Parkinson’s disease. This pattern of symptoms is different from that usually seen in Parkinson’s disease, in which the motor symptoms appear when a person is in his or her 50s or 60s, and may or may not be associated with problems in thinking. In the Australian family, blood tests showed that the affected members had a loss of DNA in the RAB39B gene. This loss of DNA prevented the gene from making a functional protein. Later we identified a family in the United States that showed a similar pattern of symptoms, and we confirmed that these members also had alterations in the RAB39B gene. These findings led to our current work, which is to investigate the normal function of the protein made from the RAB39B gene. This work will hopefully help us understand why people get Parkinson’s disease and lead to new treatment methods.
What are some of the advances you have seen in movement disorder research?
Modern genetic screening techniques have led to major advances in the identification of genetic changes that underlie movement disorders. The genetic changes have provided substantial insight into the brain pathways affected in movement disorders. Knowledge gained from genetic studies is important for understanding both inherited (ie, passed on from one generation to the next) and idiopathic (ie, of unknown cause) forms of disease because many experimental findings are common to both. This suggests that the same physiological pathways are disrupted in people with inherited and idiopathic disease.
What are some of the questions we need to answer in the future regarding movement disorders?
Research is currently delineating the mechanisms underlying disease progression. The information gained from these studies can then be used to determine if we can identify one or more robust biomarkers that will enable accurate diagnosis before people develop symptoms. Early diagnosis and intervention are important for the delay or prevention of disease. For example, by the time symptoms such as tremor develop in people with Parkinson’s disease, significant damage is already present within the brain. Thus, diagnosis and intervention would ideally occur prior to the onset of symptoms.
What do you think it is important for patients and/or laypeople to know about research and/or movement disorders?
Scientific research and subsequent discoveries would not be possible without the participation of patients, affected families and healthy individuals. The contributions of study participants can vary widely depending on the study, including completing surveys, to undergoing scans (such as an MRI), or providing biological samples. However, all of these contributions by participants are crucial to gaining insight into both normal and disease physiology. This insight will ultimately advance the development of new therapies.
How will the PMDF money help you to pursue your research goals?
The money kindly provided by the PMDF will contribute to the cost of resources and reagents that are essential to complete experiments that will be applied in our investigation of RAB39B function.
This article originally appeared on page 1 of the Spring, 2016 PMDF newsletter.