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Mitochondrial diseases: developing new treatments for children with these rare and sometimes devastating diseases

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What did the project achieve?

“We have established some important new laboratory techniques that will allow us to understand mitochondrial diseases better,” says Professor Michael Duchen of University College London. “And we hope these will prove useful for testing potential new treatments in the future.”

Although rare – affecting up to one in 5,000 people1– mitochondrial diseases can be devastating. Symptoms usually start in childhood and vary in severity, but may include seizures, learning disabilities, deafness and blindness. Sadly, they are usually progressive and with no effective treatments currently available, some children will lose their lives early.

New treatments are desperately needed to provide hope for children with mitochondrial diseases. But unfortunately, a major obstacle is a lack of good experimental systems for researchers to use in the laboratory.

The team set out to develop some important new techniques that would allow them to study the causes of mitochondrial diseases and investigate potential new treatments in the laboratory more effectively.

“We’re pleased that we have now created a new experimental system that will improve our ability to study these devastating diseases,” says Professor Duchen.

“We hope that our work has laid the foundations for developing new treatments to improve and extend the lives of children with mitochondrial diseases in the future,” says Professor Duchen.


1. Sirrs S et al. Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology. BC Medical Journal 2011; 53: 172-6.

This research was completed on

Estimates suggest up to one in 5,000 people has what’s called a mitochondrial disease.1 These diseases normally start to cause problems during childhood or teenage years. The way they affect children varies greatly, but those with the most severe illness can suffer devastating symptoms including seizures, learning disabilities, deafness and blindness. There is no cure and some children’s lives are cut tragically short. Professor Michael Duchen, of University College London, is exploring cellular mechanisms that could form the basis of new treatments for mitochondrial disease, with the longer-term aim of finding a way to improve children’s wellbeing and increase life expectancy.

How are children’s lives affected now?

“There is huge variability in how mitochondrial diseases affect children’s lives,” says Professor Duchen. “Some children have quite mild disease, experiencing, perhaps, some muscle weakness that makes it difficult for them to exercise or take part in sports. Other children, though, experience much more severe symptoms, which have a devastating effect on their lives – and their families. For example, children can lose their vision and/or their hearing, suffer seizures and severe vomiting, and develop learning disabilities, dementia and diabetes.”


Sadly, mitochondrial diseases are usually progressive. “There are no reliable treatments for mitochondrial diseases. Children with the most severe illness face a relentless deterioration in their condition and a shortened lifespan, with some losing their lives during infancy.” There is an urgent need for better treatment.

How could this research help?

Professor Duchen’s work focuses on mitochondria – tiny structures inside cells that generate energy. Mitochondria are the powerhouses of the cell and each cell can contain a staggering 100,000 of them altogether.1 Professor Duchen believes that increasing understanding of these tiny structures could eventually lead to new treatments for mitochondrial disease.

“Almost all children with mitochondrial diseases have a mixture of normal and faulty mitochondria in their cells,” explains Professor Duchen. “We suspect that children who have a higher proportion of faulty mitochondria might be the ones who experience the worst symptoms. Our main goal is to find out whether drugs can shift that balance and cause an increase in the proportion of healthy mitochondria – and whether that helps cells to work properly.”

“Our work is still in the laboratory stages,” says Professor Duchen, “but everything we know so far suggests that even a small increase in the proportion of healthy mitochondria might bring about substantial improvements in children’s wellbeing and prolong their lives.”


1. Sirrs S et al. Primer on mitochondrial disease: Biochemistry, genetics, and epidemiology. BC Medical Journal 2011; 53: 172-6.

Project LeaderProfessor M R Duchen PhD MRCP
Project TeamProfessor M G Hanna BSc FRCP
Project LocationDepartment of Cell and Developmental Biology, University College London
Project Location OtherDepartment of Molecular Neuroscience, Institute of Neurology, University College London
Project duration3 years
Date awarded14 August 2013
Project start date1 October 2013
Project end date28 February 2017
Grant amount£192,243
Grant codeGN2158
AcknowledgementsThis project is supported by a generous grant from The Henry Smith Charity.


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