Relevant part -
Implications for Neurodevelopmental Disorders
The researchers found thousands of isoform switches that occur during brain development, implicating previously uncharacterized RNA-binding proteins in cellular identity and cellular fate decisions. Their findings also elucidate genetic risk mechanisms for neurodevelopmental and neuropsychiatric disorders, including a reassessment of the significance and clinical relevance of thousands of rare genetic variants.
“We found that high-confidence risk genes for autism or neurodevelopmental disorders tend to be genes that have more isoforms, and those isoforms are expressed differently during neurogenesis,” said de la Torre-Ubieta, an assistant professor of psychiatry and behavioral sciences. “This implies that dysregulation of the expression of specific isoforms is a potential mechanism underlying these disorders.”
15 Jun 2024, 5:54 pm
