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New genetic risk factor for motor neurone disease

7 December 2020
Appeared in BioNews 1075

A new genetic risk factor for motor neurone disease (MND) has been identified in so-called 'junk' or non-coding DNA.

Non-coding DNA makes up more than 99 percent of the human genome. These sequences used to be considered junk DNA, because they do not directly make a protein, but it is now known that they can be involved in regulating gene expression. The research also found that an existing drug developed at the University of California San Diego called SynCav1 could help MND patients with the newly identified genetic risk factor.

Dr Jonathan Cooper-Knock, lead author of the study published this week in Cell Reports, 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.'

MND is a disorder that affects the motor neurons: nerves in the spinal cord and the brain that convey information between the nervous system and the muscle to allow movement. In MND, the messages from the nerves gradually stop reaching the muscle. As the disease progresses, the patient's muscles weaken and eventually waste, impeding walking, talking, eating and breathing.

The research was carried out using genetic data from over 15,000 MND patients and 7500 control subjects, collected by Project MinE. The comparative analysis found the newly discovered genetic changes in around one percent of patients with MND.

Around 5000 people in the UK and 30,000 people in the US are currently living with MND, with prevalence expected to rise in the future. The research team are hopeful that their findings will aid in developing personalised medicine for MND patients.

Importantly, the new methods developed in this study could be applied to identify non-coding DNA regions implicated in other diseases.

'Delving into so-called "junk DNA" is extremely difficult to do and we are incredibly proud that Project MinE ... has aided this discovery', said Dr Nicholas Cole, head of research at the MND Association, which funded the study. 'The hope of course is that through continuing public support, collaboration and partnership working we will find solutions to unpick the complex nature of MND which will lead to an effective treatment'.

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