MND risk factor identified in Junk DNA Labmate Online

Scientists at the University of Sheffield have identified a new genetic risk factor for Motor Neurone Disease (MND), which, if treated, could prevent or prevent a degenerative condition. The groundbreaking research focused on genetic mutations in uncoded DNA, often referred to as waste DNA because it does not directly encode protein sequences. Uncoded DNA makes up more than 99 percent of the human genome, but is currently relatively unexplored.

This research introduces new methods for studying mutations in non-coding DNA that may have been implicated in other diseases.

Experts from the Institute of Neuroscience at the University of Sheffield also found that a neuroprotective drug developed at the University of California San Diego (UCSD) called SynCav1 may help MND patients who carry the recently discovered genetic imitation present in up to one percent of MND Patients.

MND, or Lateral Sclerosis Amyotrophic Sclerosis (ALS) is also a disorder that affects the nerves – motor neurons – in the brain and spine that connect the nervous system to the muscles to enable the movement of the body. The messages from these nerves gradually stop reaching the muscles, leading to weakening, stiffen and eventually detoxification.

Dr Johnathan Cooper-Knock, lead author of the study and NIHR Clinical Lecturer in Neurology at the Institute of Neuroscience at the University of Sheffield, said:

“Not only have we identified a mutation in DNA waste that puts people at risk of developing a specific form of MND, but we have also found out by targeting the gene mutated with the established neuroprotective drug called SynCav1, it may be able to stop or prevent the disease from progressing in these patients. This is a major setback in terms of genetic risk factors driving personal treatment for MND patients. ”

The research was made possible by unprecedented amounts of patient data collected by Project MinE, an international genetic database that aims to map full DNA profiles of at least 15,000 MND patients and 7,500 control subjects to perform comparative analyzes.

Dr Nicholas Cole, Head of Research at the Neurone Motor Disease Society, said: “The findings encourage further developments in this lesser known field. The MND Association is delighted to continue to support both SITraN and Johnathan Cooper-Knock and we are grateful to them for keeping them informed of their research. It is very difficult to get into what is known as ‘DNA waste’ and we are very proud that Project MinE, which is also funded by the MND Association, has helped with this discovery.

“It is our sincere hope that, through continued public support, collaboration and partnership working, we will find solutions to realize the complex nature of MND that provides effective treatment.”
Published in the journal Cell Reports

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