Scientists from the Wellcome Trust Centre for Mitochondrial Research at Newcastle University have found a gene mutation involved in mitochondrial disease. Their findings have just been published in the American Journal of Genetics.
The gene, TMEM126B, makes a protein that's needed for assembling one of the enzyme complexes involved in making energy. The mutation disrupts the assembly process, which means the people who are affected can't generate enough energy in their muscles.
Mitochondrial diseases can lead to muscular weakness, blindness, fatal heart failure, learning disabilities, liver failure, diabetes and death in early infancy.
The researchers used next-generation sequencing to develop a test for inherited mutations in TMEM126B. The new test lets scientists screen more genes and means families can receive a diagnosis within days.
The technique has already identified six people affected by this form of mitochondrial disease.
Finding a genetic cause helps families to understand what's wrong with their child and the risks for their future children. For a family with one child affected by this type of mitochondrial disease, there's a 25 per cent chance of each further child being affected.