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 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.
As part of the NIHR’s Newcastle Biomedical Research Centre, Mitochondria and Neuromuscular disease is a key research theme, led by Professor Sir Doug Turnbull.
Publishing in the American Journal of Human Genetics, first author and PhD student Charlotte Alston who is funded by the National Institute for Health Research (NIHR), 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 was carried out at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University and was funded through a National Institute for Health Research (NIHR) doctoral fellowship and made possible through the Newcastle Academic Health Partners, a collaboration involving Newcastle Upon Tyne Hospitals NHS Foundation Trust, Northumberland, Tyne and Wear NHS Foundation Trust and Newcastle University. This partnership harnesses world-class expertise to ensure patients benefit sooner from new treatments, diagnostics and prevention strategies.
The full story is available on Newcastle University’s website.
REFERENCE: Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2016.05.021