Destroy mutant mitochondrial DNA with MRC-MBU at RAREfest22
The strategic mission of the MBU is to understand mitochondrial biology in health and disease, and to exploit this understanding to develop new therapies and improve human health.
Alex Whitworth is a Group Leader at the Medical Research Council Mitochondrial Biology Unit (MRC-MBU) and leads one of the 9 teams within it. Penny Peck is the Communications and Postgraduate Manager, supporting the postgraduate students and coordinating the programme of public engagement activities.
Financed largely by the Medical Research Council, Alex and his researchers focus on understanding the fundamental biology of mitochondria, a particular part of the cell, that sometimes go wrong and cause disease. As he explained:
A very special feature of mitochondria is that they have their own small genome,(DNA) which is susceptible to mutation. So, there are some very specific types of diseases which are caused by the mutation of the mitochondrial genome. While these tend to be relatively rare types of diseases, natural variations in the mitochondrial genome also influence a wide range of more common conditions.
“Advances that have happened in the last few years are aimed at tackling some of these mitochondrial diseases, including one solution coined the ‘3-person baby’. As you have genetic contributions from mum and dad, for the majority of the genome, and mum only for the mitochondria genome, if there is a problem only with the mitochondria genome but the rest of the genome is perfectly fine, you could simply replace the mitochondrial genome with a good set. For example, using in vitro fertilisation, you can replace the mitochondria that are bad with mitochondria which are good from another maternal donor. This then means mum, dad and a third person contribute to the baby. Hence the name ’3-person baby’. In theory this should be able to cure a lot of these diseases. And excitingly the UK is one of the leading centres in the world that is pioneering this technology. ”
Alex and Penny are excited to bring a special game to RAREfest22 which enables them to talk about the research described above and allow people to better understand how mitochondria have their own genome, and explain how one of the therapeutic angles is to try and remove the bad mitochondria and the kinds of technology the research teams in their unit have been developing. As Penny explains:
At RAREfest we will have a number of specialist biology researchers on hand to help with our game and explain the science! We will have mitochondria looking like how they appear in our cells, along with ‘good’ mitochondrial DNA (green balls) mixed with ‘bad’ mitochondrial DNA (black balls), and the challenge will be to place all the bad in our mitochondrial DNA dustbin!
Both Alex and Penny wish to showcase that this is an exciting time for mitochondrial research and translational science. They both firmly believe that researchers are on the cusp of now being truly able to translate the research and technological developments into viable therapeutic approaches. And whilst there is still some way to go regarding safety and efficacy, it is about hope and knowing that they can make a real difference in the delivery of solutions in the foreseeable future.
So come and see Alex, Penny and their team at RAREFest22 – learn and have fun on the day!