Researchers Used Computational Modeling To Identify Gene Mutations That Impacted The Evolution Of Human Cognition And Determine The Origins Of Complex Brain Disorders
A new study conducted by researchers from the National Institutes of Health (NIH) utilized computational modeling to identify human genome mutations that likely impacted the evolution of human cognition.
This novel inquiry into human genomics has two significant impacts. It may lead to the discovery of advanced complex brain disorder treatments, as well as a more well-rounded understanding of human health overall.
A distinct feature of human evolution is human cognition since it differentiates us from other primates.
While over 100 million gene mutations have occurred since the human-chimp split, though, scientists have only found a minute number to be significant.
So, researchers from the National Cancer Institute (NCI) and the National Library of Medicine (NLM) set out to explore this massive realm of genomic change.
They developed an artificial intelligence (AI) model of human brain gene regulation– which ultimately pinpointed thousands of mutations that likely impact neocortical development and facilitate the gain of mathematic abilities via modified mechanisms of brain gene regulation.
When researchers sequenced the human genome in 2001, they discovered that just 2% of our genomic sequence is used for coding genes– which turn into proteins. Then, this information is utilized by every single cell in our bodies.
However, the function of “noncoding DNA,” which makes up the other 98% of our genome, has remained largely unknown.
It is also thought that approximately 95% of disease associations are hidden within this noncoding portion.
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So, senior investigator Ivan Ovcharenko from NLM’s Intramural Research Program joined forces with Sridhar Hannenhalli, a senior investigator from the NCI’s Center for Cancer Research.
And together, the team developed an AI model to measure the impact of noncoding genome mutations on human brain development and function.
This effort led to a group of noncoding mutations being identified. These mutations were found to disrupt brain regulatory pathways and even possibly cause numerous complex brain disorders– such as Autism spectrum disorder (ASD).
“There are treasure islands within the sea of noncoding DNA in the human genome that are critically important for regulating human genes,” explained Ovcharenko.
Most of the mutations in these regions are benign. However, a specific class of mutations can severely impact regulatory region function and affect cellular activity in the brain.
“By being able to address the impact of individual mutations, we are advancing towards understanding the mechanism of complex diseases and disorders and are paving the way for the development of novel therapeutic approaches,” Ovcharenko concluded.
Moving forward, the researchers believe this human genomics work will have a widespread impact on advancing human brain knowledge and overall care of human health.
To read the study’s complete findings, which have since been published in Science Advances, visit the link here.
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