Researchers identify a new cause of childhood mitochondrial disease

A rapid genetic test developed by Newcastle researchers has identified the first patients with inherited mutations in a new disease gene. The team of medics and scientists, led by the Wellcome Centre for Mitochondrial Research at Newcastle University, found four children with defects in a building block of complex I called NDUFA6. Mitochondrial diseases are genetic conditions affecting the batteries of the cell, with around one in 4,300 affected children born every year. Symptoms include muscle weakness, blindness, deafness, seizures, learning disabilities, diabetes, heart, and liver failure. There is no cure and affected children often sadly die in early infancy.