Cell Rep: What's new! Scientists identify motor neurone disease risk genes in "junk DNA"!

4, 2020 // -- In a recent study published in the international journal Cell Reports, scientists from the University of Sheffield and others identified a new risk factor for motor neurone disease (MND, Motor Neurone Disease) in junk DNA that could slow or prevent progression of degenerative diseases in the body if it is effectively treated; in the
article, researchers focused on genetic mutations in non-coded DNA, commonly known as junk DNA, because it does not directly encode protein sequences, which make up more than 99 percent of the human genome, but little is known about it.
researchers used the new method to study mutations in non-coded DNA, saying that a neuropential drug currently available called SynCav1 could help treat patients with motor neurone disease that carries newly discovered genetic mutations.
Photo Source: University of Sheffield Motor Neurone Disease, or Amyotrophic Lateral Sclerosis (ALS), is a disease that affects motor neuron cells in the brain and spinal cord that connect the nervous system to muscles to promote movement in the body;
The progression of the disease affects the patient's ability to walk, talk, use arms and arms, eat and breathe, and so far there are about 5,000 people with motor neurone disease in the UK and 30,000 in the US, and researchers predict that the number of cases will continue to rise in the future.
, scientists have never systematically analyzed non-coded or junk DNA associated with motor neurone disease, said Jonathan Cooper-Knock, a researcher at the University of Washington.
In this paper, the researchers not only identified specific junk DNA mutations that put people at risk of developing certain forms of motor neurone disease, but also found that using the neurosuperative drug SynCav1 to target the mutated gene may potentially slow or potentially inhibit the progression of the disease.
This paper is an important breakthrough in the field of motor neurone disease research, and later researchers will further study to find more genetic risk factors, thus providing new ideas and hopes for the development of new individualized therapies for motor neurone disease.
() Original source: Johnathan Cooper-Knock, Sai Zhang, Kevin P. Kenna, et al. Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene, Cell Reports (2020) doi:10.1016/j.celrep.2020.108456。