Genetics

Mother's Drive Helps Research on Rare Autism-linked Mutation

Source: 
SFARI
Date Published: 
March 14, 2013
Abstract: 

A mother with two sons with autism helps advance research on neuroligin-4 mutations.

Changes to Children's Study Threaten its Value, Experts Say

Source: 
SFARI
Date Published: 
March 7, 2013
Abstract: 

Autism researchers and advocates are concerned about changes to the recruitment strategy of the National Children’s Study, which aims to enroll 100,000 pregnant women, monitor environmental exposures, and examine gene-environment interactions in the women and their children. The changes, which include forgoing door-to-door recruitment, may limit the generalizability of the findings.

Oxytocin and Vasopressin in Children and Adolescents With Autism Spectrum Disorders: Sex Differences and Associations With Symptoms

Source: 
Autism Research and Treatment
Date Published: 
February 14, 2013
Abstract: 

Following positive results of treatment studies using oxytocin (OT) and evidence of genetic variations in the OT-arginine vasopressin (AVP) pathway in individuals with ASD, a new study from UC Berkeley further examines the involvement of OT and AVP in ASD. Results suggest levels of OT in individuals with ASD may not be as low as previously believed. Moreover, the researchers found significant gender differences, including higher levels of OT in girls and higher levels of AVP in boys.

SFARI Gene

Source: 
SFARI
Date Published: 
February 21, 2013
Abstract: 

SFARI Gene is an integrated resource for the autism research community. It is a publicly available, curated, web-based, searchable database for autism research. This resource is built on information extracted from the studies on molecular genetics and biology of Autism Spectrum Disorders (ASD). The genetic information includes data from linkage and association studies, cytogenetic abnormalities, and specific mutations associated with ASD.

Sex Differences in Autism Spectrum Disorders

Source: 
Current Opinion in Neurology
Date Published: 
February 13, 2013
Abstract: 

A review of current research shows that ASD affects females less frequently than males and suggests this difference may be due to several sex-differential genetic and hormonal factors.

Astroglial FMRP-Dependent Translational Down-regulation of mGluR5 Underlies Glutamate Transporter GLT1 Dysregulation in the Fragile X Mouse

Source: 
Human Molecular Genetics
Date Published: 
February 7, 2013
Abstract: 

This paper discusses the role fragile X mental retardation protein (FMRP) plays in protein expression in astrocytes, and suggests that FMRP loss in astrocytes may contribute to the development of fragile X.

Sequencing Studies Implicate Inherited Mutations in Autism

Source: 
SFARI
Date Published: 
January 23, 2013
Abstract: 

SFARI: Rare, inherited mutations contribute to a significant proportion of autism cases according to two new studies published in Neuron.

Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

Source: 
PLOS One
Date Published: 
January 14, 2013
Abstract: 

Researchers discover 25 new autism-linked copy number variants.

Genetic and Functional Analyses of SHANK2 Mutations Suggest A Multiple Hit Model of Autism Spectrum Disorders

Source: 
PLOS Genetics
Date Published: 
February 2012
Abstract: 

"Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD."