Assessing network and synaptic communication in the hippocampus of behaving Fmr-1 null mice, André Fenton and colleagues showed altered network communication linked to behavioral alterations in fragile X syndrome.
SFARI Investigator Liqun Luo discusses the neurodevelopmental disorder Smith-Magenis syndrome and his lab’s efforts to understand its underlying biology.
Huda Zoghbi and Stelios Smirnakis investigate how opposing molecular deficits in MeCP2 duplication and Rett syndromes lead to similar behavioral phenotypes.
One hallmark of several autism spectrum disorders (ASDs) is altered protein synthesis in the brain, which results in synaptic dysfunction and disease pathology. Genetic variations in PTEN, TSC1, TSC2, FMR1, SHANK3 and NLGN3, and microdeletions at 16p11.2 have all been linked to ASDs, and mouse models of these mutations exhibit alterations in a form of synaptic plasticity called metabotropic glutamate receptor-induced long-term depression (mGluR-LTD). Many studies support a role for mGluR-LTD in learning, with alterations in mGluR-LTD linked to a variety of neurological disease states, including ASDs. These studies have also demonstrated that the proper functioning of mGluR-LTD relies on rapid synthesis of proteins, leading to the suggestion that aberrations in mRNA translation may contribute to disease pathology. However, it remains unclear what particular mRNAs are involved in this process.
Using fMRI in typically developing children, Vinod Menon finds one’s mother’s voice activates a network of brain regions predictive of a child’s social communication skills.
Chromosomal copy number variations (CNVs) are common genetic abnormalities in autism spectrum disorder (ASD) and have been identified in approximately 10 percent of individuals with ASD. Currently, there is a knowledge gap in the understanding of the molecular and synaptic mechanisms underlying CNV-associated ASD.