Wednesday, April 23, 2025

Are There Developmental Origins of Autism?

  A relatively recent study conducted by the National Institute of Health on ASD(autism spectrum disorder),  have led researchers to have found several factors that likely contribute to the disorder. However even with certain genetic variations being associated with ASD, researchers still have been unable to identify how these variations shape the development and function of the brain. ASD is a neurological and developmental disorder that encompasses a wide range of symptoms, including but not limited to how people interact with others, communicate, learn, and behave. Symptoms will generally appear within the first two years of life, but can be diagnosed at any age. 

    For this study, researchers investigated the human exome which includes all the exons in the human genome and DNA components that provide instructions for making proteins. While exons only make up roughly 1 to 1.5% of a person's genetic code, they are typically responsible for disease causing mutations. Therefore sequencing an individual's exome can allow researchers to identify certain genetic mutations that are responsible for a disorder/condition. In the context of this experiment, researchers sequenced those with and without ASD to compare their exomes. Data from 35, 584 people was collected, with 11,986 of those people having ASD. The results showed that there was very strong evidence that 26 genes are linked to ASD and another 76 were identified to have correlation to the disorder. Of the 102 genes, 60 had not been linked to ASD before. These findings suggest that there are many more genetic variants associated with ASD than previously thought.



No comments:

Post a Comment