Back again, I thought with a smile on my face as the train pulled into the Liverpool Lime Street station. It was a lovely Wednesday, sunny and quite warm for late autumn.
I support Liverpool FC and I have been coming to Liverpool for a number of years. During each of those visits I learned a great deal about the values the city holds and about the people of Liverpool.
My first day in Liverpool was all about football. However, I was excited about visiting three laboratories around Liverpool the next day and getting to know researchers in charge of some of the projects MDUK is funding.
Learning how to ‘retrain the body clock’ for people with collagen-6 congenital muscular dystrophy
My first stop was at the University of Liverpool, the laboratory of Dr Vanja Pekovic-Vaughan. She passionately talked about her career and the current MDUK-funded project. Dr Pekovic-Vaughan is investigating how internal body clock genes (genes involved in processes in cells that often coincide with a 24-hour day cycle) are affected in people with collagen-6 congenital muscular dystrophy.
If we can find ways to retrain the body clock that we know is already in some way disrupted in people with collagen-6-related muscular dystrophy, we can expose these people to, let’s say, ‘blue light’ in the morning, or give them certain types of food in a specific time of day. This would be something to take advantage of and see if we can increase their quality of life by helping to manage their symptoms.
- Dr Pekovic-Vaughan
As a former researcher myself, I was blown away by the idea behind this project. This is something we are exposed to every single day, and we don’t pay that much attention to it.
Finding a way to restore muscle cell proteins for people with facioscapulohumeral muscular dystrophy
My next stop was John Moores University. I was greeted by Dr Yusuke Nishimura, a postdoctoral researcher in Professor Burniston’s lab who is working on a project funded by MDUK. Coincidentally, Yusuke is a part of the research communications group of volunteers at MDUK, and it was an absolute pleasure to meet him face-to-face for the first time.
Yusuke uses a method called mass spectrometry to determine the differences in protein abundance between people with facioscapulohumeral muscular dystrophy (FSHD) and their non-affected relatives. Importantly, people with FSHD show lower than expected amounts of some proteins.
One explanation could be that the proteins get degraded soon after their production, which is what Yusuke is trying to prove, as well as finding out why this happens. This could eventually become a part of a therapeutic approach whereby the regular protein turnover could be restored in muscle cells.
I believe, as a scientist with the passion to improve human health and find a cure for FSHD and other muscle-wasting conditions, I should be able to deliver the information we uncover in the lab to different audiences and people with the condition so that they can know where we are now with research and how is it advancing.
- Dr Yusuke Nishimura on why he chose to volunteer as part of our research communications group.
Understanding the genetic changes that cause congenital muscular dystrophy
Then it was time to go and visit the third lab of the day back at University of Liverpool, to meet Dr Laura Swan and her PhD student Filippo Dall’Armellina.
Dr Swan and her lab are studying a protein called INPP5K. Genetic changes in INPP5K were found to cause a type of congenital muscular dystrophy, although the mechanisms behind this cause are unknown.
Dr Swan was awarded an MDUK grant this year to investigate how INPP5K protein looks (its structure) and how do genetic changes in INPP5K affect what it does in cells (its function), and therefore shed light on the complex processes underlying INPP5K-related congenital muscular dystrophy. It is Filippo who was recruited to answer these questions as part of his PhD project. This research builds on a previous research project that was funded by MDUK.
Laura and Filippo’s project represents what we call ‘basic’ research – where small molecules are looked at to understand what is really going on in cells and how things work at the molecular level. This type of research is often considered to be abstract, as it is far away from clinical use. However, the basic type of research is crucial for our understanding of what is happening, and without it, many treatments, cures, and therapies today wouldn’t exist.
If you are constantly trying to cure sneezing, which is a symptom of a cold, then you won’t get very far. You need to actually stop the infection that is causing these symptoms. It is important to understand what keeps the cells alive and ticking – is there a process that went wrong, and the cell is trying to save itself, or is that cell reaction a consequence of the disease?
- Dr Laura Swan
After finishing in the lab, Laura and Filippo kindly offered to show me around the campus. They told me the story about Liverpool’s two cathedrals. We had coffee and chatted for another half hour, about work, life, science… It was a lovely day.