Researchers Find 102 Genes Linked to Autism in One of the Largest Studies of its Kind to DateQuote:
In a study published Jan. 23 in Cell, researchers led by Joseph Buxbaum, director of the Seaver Autism Center for Research and Treatment at Mount Sinai, took advantage of better genetic sequencing technologies and one of the largest databases of DNA samples from people with autism to identify 102 genes associated with autism, including 30 that had never before been connected with the condition. The study also distinguished the genes more closely associated with autism from those that might also contribute to other neurodevelopmental disorders including intellectual and motor disabilities.
Link to Time Magazine Article
Quote:
Highlights
• 102 genes implicated in risk for autism spectrum disorder (ASD genes, FDR ≤ 0.1)
• Most are expressed and enriched early in excitatory and inhibitory neuronal lineages
• Most affect synapses or regulate other genes; how these roles dovetail is unknown
• Some ASD genes alter early development broadly, others appear more specific to ASD
Summary
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.
Link to Study Published in Cell Magazine (Login required to view full article.)
_________________
I have no love for Hamas, Hezbollah, Iranian Leadership, Islamic Jihad, other Islamic terrorist groups, OR their supporters and sympathizers.
24 Jan 2020, 5:09 pm
