Can muscle biopsy be avoided for paediatric patients with suspected mitochondrial disease? (MUSKETEER MEMO)

Research summary

Mitochondria are the “powerhouses of the cell”, generating the energy that the body needs. Childhood mitochondrial disease is a life-limiting condition caused by faulty genes and affects at least 1 in 4,300 births. There is no cure. Any part of the body can be affected; the parts that require the most energy are worst affected (e.g. brain and muscle). Mitochondrial disease symptoms can emerge at any age but the earlier they appear, the worse the outcome tends to be. Some babies develop symptoms at birth, whilst others attain developmental milestones, such as sitting, but then lose these abilities; many die during childhood. Confirming a diagnosis of mitochondrial disease often involves taking a piece of muscle under general anaesthetic which has a significant risk of complications, particularly in critically ill children. Unlike many genetic disorders that are caused by faults in a single gene, over 1000 genes could cause mitochondrial disease. Muscle tests can help guide our search, but it can take years to find the faulty gene. Most children with mitochondrial disease have healthy parents; these parents have a 25% chance of having another child with mitochondrial disease. If I can identify the faulty gene, we can offer to test subsequent children early in pregnancy or offer IVF-based tests to identify unaffected fetuses. These tests give the families choices but we must know what the faulty gene is first; I want to find the fault without putting a poorly child through general anaesthetic and muscle biopsy. By using blood from the child and both parents I can check every possible gene for faults without needing muscle. I can use cutting-edge techniques in the lab to create cells that behave just like the patient’s meaning I can study the effect of the fault without patient muscle.

Principal Investigator

Dr Victoria Nesbitt

Contact us

Email: childrensresearch@ouh.nhs.uk

IRAS number

255610