WCMR Science Seminar Series

In last week’s WCMR Science Seminar, we had two fantastic talks from Dr Jane Newman and Dr Chun Chen. Read on to find out more about their research updates.

Exploring clinician-rated outcome measures in RRM2B-related disorders

Today I presented an update about a study looking into a number of measures used for the PROSPER2B study. This group of patients have profound muscle weakness that can affect multiple systems including their breathing, movement of all four limbs and limit their activities of day-to-day life.

In this study, Dr Lim and I are looking at different ways of measuring the effects of RRM2B. These include measures of muscle power, breathing, functional activities and quality of life. The presentation today was limited to the physical measures of function (all other measures will be reported in Dr Lim’s PhD).

Unfortunately, due to the COVID pandemic recruitment to the study was extended so all results are currently not available.

Why is this important?

The ability to measure symptoms accurately and reliably will allow us to provide patients with advice about whether their symptoms will change over time and how their symptoms will affect them. Also, as potential treatments are developed for mitochondrial disease, we need assessments that can measure any changes in symptoms, better or worse. By doing this study and exploring some of the measures, we have at our disposal together with patients we can decide which measures are the best for any future studies.

Deficiency of mitochondrial quality control proteins in Parkinson’s: a post-mortem study using imaging mass cytometry

In today’s WCMR Progress Meeting, I shared some data generated using imaging mass cytometry (IMC) on midbrain tissue sections. IMC is a novel imaging technology that detects the amount of different heavy metals tagged on to different specific antibodies. This allows us to get a picture of the amount of protein in brain cells. My main research interest is to use IMC to investigate the expression patterns of a group of proteins in brain cells from samples of Parkinson’s disease (PD) patients. These proteins are mainly involved in the production of new mitochondria, regulate the distribution of mitochondria and maintain the integrity of mitochondria within brain cells, and are found to be critical in the disease progression of PD. Identifying the differential expression pattern of these proteins will be beneficial to PD treatment and drug screening development in the future.