New rapid gene test for mitochondrial disease

Newcastle researchers have developed a genetic test providing a rapid diagnosis of mitochondrial disorders to identify the first patients with inherited mutations in a new disease gene.

The team of medics and scientists at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University, together with international collaborators, have identified mutations in a gene, known as TMEM126B, involved in energy production in patient’s muscles.

Using next generation sequencing they have now developed a rapid test which provides a result within 2-3 days – previous techniques took months.

Mitochondrial diseases affect the batteries of the cell and can lead to muscular weakness, blindness, fatal heart failure, learning disability, liver failure, diabetes and can lead to death in early infancy.

Charlotte describes the technique which has already identified six patients from four families affected by this form of mitochondrial disease.

She said: “Identifying a fault in Complex I, one of the building blocks of mitochondria which is responsible for causing disease combined with our custom gene capture and the latest sequencing technology means we can screen many more genes to diagnose this debilitating disease.

“It means families can get a rapid diagnosis within days rather than the weeks and months that testing can currently take. For families who are waiting on a genetic diagnosis before trying for another baby, or they may already be expecting their next child, time really is of the essence.”

The research has confirmed the identity of a mutation causing mitochondrial disease affecting Complex I, one of five complexes involved in energy production. The gene, TMEM126B, makes a protein necessary for assembly of the complex, with defects causing problems with energy generation in patient’s muscles.

Finding a genetic cause is important to families as it means that they can find out what is wrong with their child enabling doctors and scientists to help them understand the risks to their future children and help prevent them losing another child.

Newcastle Universities