PUBLIC RELEASE DATE:

17-Dec-2013

Contact: Ben Jones B.P.Jones@leeds.ac.uk University of Leeds

A new gene mutation which will help doctors give a more accurate diagnosis of a particular type of brain and muscle disease in children has been discovered for the first time by University of Leeds experts.

Mitochondrial myopathy, as it is known, causes muscle weakness, movement problems and learning difficulties and affects more than 70,000 people in the UK.

For the first time, mutations in a particular gene, MICU1, have been linked to myopathy. The discovery gives a better understanding of the genetic causes of the condition.

Working with colleagues from University College London and Great Ormond Street Hospital, as well as colleagues from the Netherlands and Italy, Dr Eamonn Sheridan's team identified two mutations in the gene using a technique called exome sequencing an alternative to whole genome sequencing.

Mitochondria are the batteries of the body's cells where energy is produced. They are found in large numbers in nerve and muscle cells, which have high energy demands. To function properly, mitochondria need a certain amount of calcium. If calcium levels are either too high or too low, they stop working properly.

MICU1 carries instructions for a protein which is essential for mitochondrial function.

Researchers found that mutations in the MICU1 gene caused less protein to be produced which led to an increase in calcium in the mitochondria. This resulted in damage to the mitochondria and changes in calcium levels in the rest of the cell.

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New gene mutation will help better diagnosis of myopathy

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