An experimental gene therapy may be effective for MND patients with a newly discovered genetic mutation – BioPharma-Reporter.com

Researchers based at the Neuroscience Institute at the University of Sheffield in the UK have identified a new genetic risk factor for Motor Neurone Disease (MND) in so-called 'junk DNA'.

The newly discovered genetic changes are present in up to 1% of MND patients.

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 currently is relatively unexplored.This research also includes new methods for studying mutations in non-coding DNA which could be applied to other diseases.

The authors of the study reported that they determined an existing neuroprotective drug developed at the University of California San Diego (UCSD) called SynCav1 could help MND patients carrying the newly discovered genetic mutation.

An experimental gene therapy for the treatment of neurological disorders such as MND and Alzheimers disease, SynCav1 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 enable movement of the body. The progressive disease affects a patient's ability to walk, talk, use their arms and hands, eat and breathe.

Around 5,000 people in the UK and 30,000 people in the US are currently living with MND, with numbers expected to rise.

High-income countries currently have the highest rates of motor neuron diseases worldwide, and the burden is increasing with the ageing population, shows an analysis of the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2016.

Dr Jonathan Cooper-Knock, lead author of the study and NIHR clinical lecturer in Neurology at the Neuroscience Institute at the University of Sheffield, said: "Until now scientists have never systematically examined non-coding or junk DNA in relation to the development of MND.

"Not only have we identified a mutation in junk DNA which puts people at risk of developing a certain form of the MND, but we have also found that by targeting the mutated gene with the established neuroprotective drug called SynCav1, it might be possible to halt or potentially prevent the disease progressing in those patients.

"This is a significant breakthrough in terms of genetic risk factors driving personalized medicine for MND patients."

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An experimental gene therapy may be effective for MND patients with a newly discovered genetic mutation - BioPharma-Reporter.com