Association funded researchers identify quadruplex structure in C9ORF72

A Motor Neurone Disease (MND) Association funded research project at UCL has given new insights into the structure and function of an MND gene called C9ORF72. The work is published in the journal Scientific Reports . Pietro Fratta (UCL Institute of Neurology) is first author of the paper which successfully identifies the structure of the six-letter genetic mistake in C9ORF72. Since the pivotal discovery in 2011 that genetic mistakes in C9ORF72 can cause up to 40 percent of cases of MND with a positive family history of the disease, researchers have been trying to unravel its role in the body, to determine how it could cause MND. Understanding how C9ORF72 works, what it looks like and how mistakes in the gene may cause MND, could assist researchers in the future to identify potential treatments that target the disease. Co-author Adrian Isaacs (UCL Institute of Neurology) explains, "Nothing is currently known about how the mistake in C9ORF72 kills motor neurones. The mistake in C9ORF72 is similar to mistakes that cause some other neurological diseases.