Scientists discover gene behind rare conditions

A team from the Montreal Neurological Institute and Hospital (The Neuro) and scientists from Oxford University have revealed a genetic defect underlying a number of rare genetic conditions.

The experts determined mutations in the RMND1 gene were responsible for severe neurodegenerative disorders in two infants and these discoveries have implications for understanding later-onset neurological diseases.

Scientists uncovered the connection by using the whole-exome sequencing technique at the Genome Quebec Innovation Centre, allowing all the genes in the body that code for proteins to be sequenced in a single experiment.

The discovery of the RMND1 gene's behaviour sheds light on conditions of mitochondrial energy metabolism.

Dr Eric Shoubridge – a specialist in these diseases at The Neuro and lead author of the study – said: "Mitochondria are becoming a focus of research because it's clear they're involved in neurodegenerative disorders in a fairly big way."

The paper is to be published in the American Journal of Human Genetics and Dr Shoubridge is hopeful the discovery will encourage pharmaceutical interest.