The development of focused medication therapy that may lessen seizures sleep issues, and associated symptoms frequent among people with intellectual disabilities is one step closer in the scientific community.
The study of a group of UNLV neuroscientists has the potential to one day improve the lives of millions of people across the world by identifying the primary cause of a variety of negative symptoms linked to specific subtypes of neurodevelopmental disorders.
The study, which was released on February 15 (2022) in the Nature journal Molecular Psychiatry, builds on earlier work by UNLV neuroscientist Rochelle Hines and colleagues, who found that two important proteins, collybistin and the GABAA receptor subunit, regulate brain cell firing and contribute to epileptic seizures, learning and memory deficits, sleep disturbances, and other symptoms frequently associated with various forms of intellectual disability, including Down syndrome.
The most recent research by the researchers showed that mutations in the gene ARHGEF9, which codes for collybistin, cause intellectual impairment via impairing subunit function. The team went on to demonstrate that is a focal point for many of the negative neurological symptoms typical of various intellectual impairment subtypes.
“Seizures and sleep deficits are two of the most common and most disruptive symptoms in children with neurodevelopmental disorders and sleep deficits, in particular, are not well treated and can impact the entire family,” said Hines, who partnered with UNLV faculty and undergraduate and graduate student researchers, as well as scientists from Tufts University and Boston Children’s Hospital. “This research gives new hope to patients that we can now develop drug therapies and provide more precise interventions.”
Researchers stated their study has the potential to enhance the quality of life for those who struggle with sleep problems, epilepsy, anxiety, hyperactivity, and other neurological abnormalities, in addition to patients with neurodevelopmental disorders.
Takeaways
- A common neurodevelopmental issue that can result from genetic abnormalities is intellectual impairment. The most common forms of these illnesses, Down syndrome, and autism, are usually associated with people who experience epileptic seizures, difficulties with learning and memory, and irregular sleep-wake cycles.
- Scientists were able to control the interaction of two essential brain proteins and found that the subunit, one of them, has a more significant impact on intellectual disability and associated symptoms than was previously supposed.
- Researchers can create specific therapeutic interventions that improve patient care by knowing which functional interaction causes the negative consequences brought on by mutations in the ARHGEF9 gene.
- Further research is underway, with hope that the work may one day advance to clinical trials.
The National Institutes of Health supported the research with funding. Additional researchers include UNLV neuroscientist Dustin Hines; UNLV student researchers April Contreras, Betsua Garcia, Jeffrey S. Barker, and Austin J. Boren; Boston Children’s Hospital neurologist Christelle Moufawad El Achkar; and Tufts University School of Medicine neuroscientist Stephen J. Moss.
