Gina Turrigiano and colleagues showed that loss of Shank3 disrupts homeostatic plasticity and that this deficit can be rescued by the mood-stabilizing drug lithium (Li+).
Research Highlights
Highlights of SFARI-funded papers, selected by the SFARI science team.
Alex Kwan and colleagues used in vivo calcium imaging to show that a mutation in Shank3 associated with schizophrenia affects the activity of inhibitory neurons in the cortex, ultimately leading to enhanced activity of excitatory neurons and altered behavior in mice.
C. elegans screen for ASD risk gene–associated phenotypes Catharine Rankin, Kurt Haas, Paul Pavlidis and colleagues used machine vision to find that mutations linked to ASD risk genes are associated with changes in habituation of response probability in C. elegans
Cell-type-specific effects of loss of autophagy in the striatum David Sulzer and colleagues used conditional knockout mice of Atg7, a protein involved in autophagy, to study the effects of loss of autophagy on the structure and function of striatal spiny projection neurons, as well as on behaviors relevant to ASD.
Genetic mutations linked to Kleefstra syndrome converge on similar neuronal hyperactivity phenotypes Nael Nadif Kasri and colleagues used micro-electrode array assays to demonstrate common neuronal network phenotypes associated with genes underlying Kleefstra spectrum syndrome.
Autism spectrum disorder risk assessment through quantification of sperm mosaicism Joseph Gleeson and colleagues used deep whole-genome sequencing and genotyping of sperm DNA to stratify ASD risk in offspring due to de novo mutation.
Neural encoding of social signals in mice Ofer Yizhar and colleagues described the altered dynamics of social representation in neurons of the medial prefrontal cortex of Cntnap2-null mice, a model of autism spectrum disorder.
Neuroimmune mechanisms in autism mouse models Gloria Choi, Jun Huh and colleagues showed that postnatal administration of IL-17a can rescue some of the anatomical and behavioral deficits observed in a maternal immune activation (MIA) mouse model of autism spectrum disorder.
Noise hypersensitivity in PTCHD1-associated ASD Michael Halassa, Guoping Feng and colleagues identified a combinatorial strategy to reverse noise hypersensitivity in Ptchd1 knockout mice, while Stephen Scherer, James Ellis and colleagues separately explored the genetic and functional complexity of PTCHD1 in humans.
Autism spectrum disorder and attention deficit hyperactivity disorder have a similar profile of rare mutations Mark Daly and colleagues used an exome sequencing data set of ASD and ADHD to identify a similar profile of rare protein-truncating variants in each disorder.