In this article, Owen Gittins, a 3rd year undergraduate student in biochemistry at the University of Cambridge, shares his journey into and involvement in Friedreich’s ataxia (FA) research.
My decision to pursue a career supporting the advancement of FA research is a personal one. My sister, Amy, was diagnosed with FA and I have seen the impact this disease can have and therefore I know the importance of finding treatments that can alleviate, and eventually reverse, the symptoms of FA. Seeing Amy’s determination to have the disease affect her life as little as possible (along with plenty of other people with ataxia) has given me the motivation to fight back against FA.
After reaching out to Ataxia UK, they helped me get in contact with Dr Sara Anjomani-Virmouni who runs an ataxia lab group at Brunel university. She kindly invited me to attend Brunel University for two months over the summer of 2023 to complete a research project. I was paired with a PhD student, Zenouska Ramchunder, who supervised me and was very helpful in teaching me the relevant techniques I needed (such as tissue culture skills, RNA extraction, qPCR and data analysis).
The aim of the project was to investigate the difference in levels of mRNA (instructions) for enzymes involved in sphingolipid (a type of fat) metabolism, in healthy cells compared to cells with FA. Other neurodegenerative diseases have also shown altered levels of some types of sphingolipids within some types of cells. FA may be similar, so looking at the enzymes that can convert sphingolipids between different forms is important in understanding the role they play in FA. However, there are still more enzymes yet to be investigated.
Next steps could include investigating levels of the same enzymes in other models, such as mouse models, or measure the protein levels. The point of the project is to find which enzymes would be a good therapeutic target to possibly revert the enzyme levels or activity back towards the levels seen in healthy cells. Hopefully in the long term there may be a drug developed that targets some of these enzymes to help alleviate symptoms of FA.
To read more about the research project and Dr Sara Anjomani-Virmouni’s research, click here.
