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What is Mitochondrial Disease?

Mitochondria are the tiny organelles present in nearly every cell in our body and they generate about 90% of the energy we need to live.  They can be thought of as the cell's batteries.  Healthy Mitochondria are essential for the cells to function properly, and survive.

Mitochondrial Disease, or 'Mito', is the term given to a group of medical disorders caused by genetic mutations in the Mitochondria. Put very simply, the 'batteries' run low, and in some cases stop working altogether.  

Mitochondrial Disease can be very hard to diagnose because depending on which cells are affected, a person's symptoms can be varied.  There are many different types of Mitochondrial Disease.  Anna had Alpers' Syndrome, a Mitochondrial Disease that is part of a larger group of conditions collectively known as Mitochondrial DNA Depletion Disorders.  The three main clinical features associated with Alpers' Syndrome are severe epilepsy, developmental regression and liver failure.

There is currently no cure for Mitochondrial Disease, but even since Anna died great progress has been made in making diagnosis quicker and easier, and research into treatments is underway.

The Mitochondrial Research Group at the UCL Great Ormond Street Institute of Child Health focuses on enhancing the outcomes for children with mitochondrial and other metabolic diseases by discovering mitochondrial disease genes, developing novel computational diagnostic strategies, and investigating therapeutic approaches where there are currently very limited, effective treatments. This work is leading to improved diagnosis and management.  Every penny raised by The Anna Lewis Brighter Future Fund goes to support this work.

For more information, please visit The Lily Foundation, the UK's main charity for Mito:

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