Copy Number Variations

Rectifying Neuroligin Synthesis Reverses ASD Symptoms in Mice

Source: 
Nature
Date Published: 
November 21, 2012
Abstract: 

Abnormally high production of neuroligins, proteins involved in synapse formation, resulted in ASD symptoms in mice. Researchers reversed ASD symptoms by reducing neuroligin synthesis.

Postmortem Brain Analysis Points to Autism Candidate Genes

Source: 
SFARI
Date Published: 
October 16, 2012
Abstract: 

Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvard’s freezer malfunction.

Using Large Clinical Data Sets to Infer Pathogenicity for Rare Copy Number Variants in Autism Cohorts

Source: 
Molecular Psychiatry
Date Published: 
October 9, 2012
Abstract: 

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case–control analyses. Nevertheless, current ASD cohorts are not large enough to detect very rare CNVs that may be causative or contributory (that is, risk alleles).

SFARI Reviews Mouse Models Used in Autism Genetics Research

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
September 25, 2012
Abstract: 

New genetic variants that increase susceptibility to autism are emerging at a rapid pace from scans for copy number variants (CNVs) — deletions or duplications of DNA segments — and next-generation sequencing. Given the profusion of data, it seems timely to assess the availability and usefulness of mouse models in which to study these genetic risk factors.

New Clinical Study Evaluates First Drug to Show Improvement in Subtype of Autism

Source: 
EurekAlert
Date Published: 
April 26, 2012
Abstract: 

In an important test of one of the first drugs to target core symptoms of autism, researchers at Mount Sinai School of Medicine are undertaking a pilot clinical trial to evaluate insulin-like growth factor (IGF-1) in children who have SHANK3 deficiency (also known as 22q13 Deletion Syndrome or Phelan-McDermid Syndrome), a known cause of autism spectrum disorder (ASD).

Mouse Model Provides Clues to Autism

Source: 
PsychCentral
Date Published: 
March 22, 2012
Abstract: 

Vanderbilt scientists report that a disruption in serotonin transmission in the brain may be a contributing factor for autism spectrum disorder (ASD) and other behavioral conditions.

Bone-marrow Transplant Reverses Rett Syndrome in Mice

Source: 
Nature Magazine
Date Published: 
March 17, 2012
Abstract: 

A bone-marrow transplant can treat a mouse version of Rett syndrome, a severe autism spectrum disorder that affects roughly 1 in 10,000–20,000 girls born worldwide (boys with the disease typically die within a few weeks of birth).

Synaptic Mutations Increase The Risk Of Autism Spectrum Disorders

Source: 
Medical News Today
Date Published: 
February 13, 2012
Abstract: 

A new study published in PLoS Genetics uses a combination of genetic and neurobiological approaches to confirm that synaptic mutations increase the risk of autism spectrum disorders (ASDs) and underlines the effect for modifier genes in these disorders.

New Research Might Help Explain How a Gene Mutation Found in some Autistic Individuals Leads to Difficulties in Processing Auditory Cues and Paying Spatial Attention to Sound.

Source: 
Science Daily
Date Published: 
February 2, 2012
Abstract: 

New research from Cold Spring Harbor Laboratory (CSHL) might help explain how a gene mutation found in some autistic individuals leads to difficulties in processing auditory cues and paying spatial attention to sound.

2 Genes Affect Anxiety, Behavior In Mice With Too Much MeCP2

Source: 
Medical News Today
Date Published: 
January 11, 2012
Abstract: 

The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating these problems in patients with too much of the protein, said Baylor College of Medicine scientists in a report that appears online in the journal Nature Genetics.