New gene mutation will help better diagnosis of myopathy

A new gene mutation which will help doctors give a more accurate diagnosis of a 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.