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Mitochondria are present in large numbers in every cell in the human body – they make all of the energy your body needs to work properly! They have their own DNA, which codes for lots of proteins that they need in order to make this energy. However, sometimes deletions can occur in this mitochondrial DNA – a large chunk goes missing, meaning the mitochondria can’t make all of the proteins they need any more. Because there are so many mitochondria in every cell, it doesn’t really matter if one or two stop working, but sometimes these deletions spread to lots of mitochondria, and this can cause a number of different illnesses. My job is to look as these mitochondria with deletions in their genomes, to work out how the deletions spread, and to find the links between mitochondrial deletions and the diseases they can cause.

I usually do some sort of exercise before I come to work (swimming or running), so it takes a cup of tea and a bit of breakfast to get myself ready for the day when I arrive at work! Then I need to check my emails, to pencil in any meetings or talks I need to go to, and check results from any experiments I’ve left to run overnight (usually sequencing and/or PCR results). If I’m working with DNA samples, they’re ready to go straight away, but if I’m doing work on individual cells, I need to extract these from tissue sections using a laser – I can then extract DNA from these to look at mitochondrial DNA from each individual cell seperately. Then my day can go one of three ways, depending on what type of information I want from the samples I’m using.  I can look for the size and site of DNA deletions (PCR and sequencing), the proportions of different deletion if there is more than one type within a cell (single molecule PCR), or I can look at the level of deletion, and total amount of mitochondrial DNA within a cell (real-time PCR). I usually finish up at work when its time to go and meet up with my triathlon club for another workout.