Guest researcher blog post written by Darija Šoltić.
Originally from Croatia, I came to the UK to do my PhD in neuroscience, where I worked on spinal muscular atrophy, a debilitating childhood motor neuron disease (MND). Earlier this year, I joined the Ruepp group (led by Dr Marc-David Ruepp) at the UK Dementia Research Institute at King’s College London, to continue my research on MNDs as a Postdoctoral researcher with the main interest in amyotrophic lateral sclerosis (ALS) – the most common type of MND.
As I’m sure you know, in ALS, nerves that allow muscles to move slowly waste, causing progressive loss of mobility. The focus of my work is the extremely aggressive form of ALS caused by changes in the gene called FUS. People with ALS that carry mistakes in the FUS gene tend to develop the condition with rapid progression. We are trying to understand how faulty FUS leads to nerve death and how to prevent this.
Of particular interest are mitochondria (shown in picture below), which are sometimes referred to as the “digestive system” of the cell as they take in nutrients, break them down, and produce energy to power the cell. We know that mitochondria do not work normally in ALS patients that carry faulty FUS, and my job is to determine how and when this happens (in collaboration with Dr Helene Plun-Favreau, University College London).
To do this, I use various laboratory methods including extremely powerful microscopes that can view cell details that are not visible to the eye, and proteomics technologies that allow me to do an inventory of all the molecules in the cell to then look for specific disease-related changes. Mitochondria are the main energy source of the cell, and we hope that by gaining knowledge of the changes that happen in mitochondria, we will get one step closer to identifying new treatments for ALS patients.
In the time of COVID-19 crisis, our laboratory work was temporary put on hold. I used this time to critically think about my research and to work on my personal and professional development – which includes this opportunity to share my research so far and work on my science communication skills by writing this post for the MND research blog. I have returned to the lab on the 6th July to continue my research on MNDs, with the support and help from my brilliant colleagues from Ruepp and Plun-Favreau group.
Thank you to Darija for writing this blog post.
The MND Association currently fund two other projects in the Ruepp lab. To read more on this, please visit our information sheet on Research we fund in 2020.