Release date: 2017-12-05
Recently, researchers from BNI have discovered five genetic mutations associated with Amyotrophic Lateral Sclerosis (ALS). This new study validates previous studies and the results are published in the most recent issue. Acta Neuropathologica magazine.
ALS is a deadly neurological disorder that affects 220,000 patients worldwide, and so far there are no effective treatments. Leading the research is Dr. Robert Bowser, Director of the Gregory W. Fulton ALS Institute, a world-renowned center for neurological research.
The authors used the technology provided by IBM Wasson Health, including a drug discovery platform (a database of 28 million related literature abstracts). The solution includes language processing, machine learning, predictive analytics, etc. The ultimate goal is to find the relationship between genes, proteins, drugs, and diseases.
The importance of this research is that it demonstrates the role of artificial intelligence algorithms in accelerating traditional laboratory research, and it also provides evidence of the effects of RNA metabolism on the pathogenesis of ALS.
More than 30 genes are currently thought to be involved in ALS, and mutations in 11 genes encoding RNA-binding proteins lead to familial ALS production. Mutations in these proteins can lead to disturbances in RNA metabolism and the production of protein-toxic aggregates, which can further lead to motor dysfunction, paralysis and even death.
The authors and others provided key mutations in 11 ALS-related RNA-binding proteins. Further, they used this information to search in a database to look for new RNA-binding protein-encoding genes involved in ALS production.
Using five different methods, including patient tissue samples and motor neuron cells differentiated from patient-derived stem cells, they also selected some of the target proteins at the bottom of the list for validation to demonstrate the accuracy of their predictions. This study shortened the work that would have taken years to a few months.
Among the top ten target genes, the authors successfully verified the effects of mutations in eight of these genes on the production of ALS, five of which had never been previously linked to ALS. Based on these results, the authors hope to help accelerate the development of new drugs for ALS.
Source: Bio Valley
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