Professor Antonella Spinazzola, MD, reflects on her experience of research into Mitochondrial DNA Medicine during the pandemic.
What we do
Research in my laboratory focuses on the parts of the cells called mitochondria, which convert most of our food into a form of energy usable by the body. We study how mitochondria are made and function, what happens when things go wrong, and how we can fix them. We have a special interest in the small circles of DNA in the organelle (mitochondrial DNA), as defects in these molecules cause a number of diseases, which can affect many organs, at any age. Muscle involvement is one of the most frequent manifestations of mitochondrial DNA dysfunction, and causes weakness, pain and fatigue.
In our studies, we use cells and tissues from patients with mitochondrial diseases, and in vivo models that mirror human disorders, to gain insight into the disease mechanisms and to develop therapies that can halt or reverse disease progression.
A challenging start
The first few weeks of the lockdown were very unsettling and frustrating. We had been preparing for months to start testing, in a disease model, chemicals that could help to treat one type of mitochondrial disorder, when we were told to stop all experimental work within 7 days. The arrival of the pandemic also delayed another study, which will test the safety and efficacy of a new compound in subjects with mitochondrial myopathy – a project that it is supported by MDUK. Moreover, the news arriving from Italy, from my family and friends and colleagues on the frontline of the emergency, were disturbing and had a significant impact on me.
Like many others, I had difficulties to establish a new work routine from home, and my thoughts and sleep were very much affected. However, anxiety and distress were then replaced by an even stronger determination and commitment to pursue our goal: to use our knowledge to alleviate pain and suffering for individuals affected by mitochondrial disorders. So, by the second week of April, I was up and running with my new routine, and the timely arrival in London, just before the lockdown, from Spain, of my partner in life and science, has been of great help and support.
For the time being…still a lot we can do
Our research cannot be performed without specialized equipment, such as microscopes, incubators, and disease models, from cells derived from patients to transgenic animals. Yet, many things can still be done from home. First, writing papers: I have been fortunate, as in the past years my group has been gathering enough data that could be analysed and processed and assembly into scientific stories.
Second, remote connection: we have switched from physical one-to-one and weekly group meetings to TEAMS and ZOOM meetings, to revise projects, discuss papers, and make plans to prioritize activities on our return to the laboratory.
In the meantime, I have worked on, and successfully been awarded, a grant that will support a new and exciting project; and as Professorial Research Fellow, I have secured promotion to tenured Full Professor, at the end of my fellowship. Therefore, after the initial adjustments, I have been busier than ever and the recent months have passed in a blur.
Hope and passion to look to the future
All that said, we rely on new experiments and data to make further progress. Our productivity is constantly assessed when it comes to grants and these are essential to advance our ideas for understanding and treating mitochondrial diseases. Finally, at the end of July, we have begun to return to our lab activities, although with many restrictions. I am eager to return to the research that I love, because, as Stephen Hawking said ‘science is not only a disciple of reason but, also, one of romance and passion’.
One thing I have learnt
There is no me, you or them, we are all connected; by being responsible and compassionate, each of us can make a better life for all.