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Researchers from the Neuroscience Institute of the University of Sheffield in the UK have identified a new genetic risk factor for motor neuron disease (MND) in so-called “junk DNA”.
The recently discovered genetic changes are present in up to 1% of patients with MND.
The research, published in the journal Cell reports, Focused on genetic mutations in non-coding DNA, often known as junk DNA because it does not directly encode protein sequences. Non-coding DNA makes up more than 99% of the human genome, but is currently relatively unexplored. This research also includes new methods for studying mutations in non-coding DNA that could be applied to other diseases.
The study authors reported that they determined that an existing neuroprotective drug developed at the University of California San Diego (UCSD) called SynCav1 could help MND patients who carry the newly discovered gene mutation.
SynCav1, an investigational gene therapy for treating neurological disorders such as MND and Alzheimer’s disease, has been licensed to CavoGene LifeSciences.
MND or amyotrophic lateral sclerosis (ALS), as it is also known, affects motor neurons in the brain and spinal cord that form the connection between the nervous system and muscles to allow for body movement. Disease progression affects the patient’s ability to walk, talk, use arms and hands, eat and breathe.
About 5,000 people in the UK and 30,000 in the US are currently living with MND, with the number expected to rise.
High-income countries currently have the highest rates of motor neuron disease worldwide, and the burden increases as the population ages, shows an analysis from the 2016 Global Burden of Diseases, Injuries, and Risk Factors Study (GBD). .
Dr Jonathan Cooper-Knock, lead author of the study and NIHR lecturer in neurology at the University of Sheffield’s Neuroscience Institute, said: “Until now, scientists have never systematically examined non-coding or junk DNA related to the development of MND.
“Not only have we identified a mutation in junk DNA that puts people at risk of developing some form of MND, but we also found that by targeting the mutated gene with the well-known neuroprotective drug called SynCav1, it might be possible to stop or potentially prevent disease progression in those patients.
“This is a significant breakthrough in terms of genetic risk factors driving personalized medicine for patients with MND.”
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