Genetics

Studies Show Key Steps of How Mutations to the MeCP2 Gene Cause Rett Syndrome

Source: 
Nature Neuroscience
Date Published: 
June 16, 2013
Abstract: 

Two collaborative papers reveal the key steps of how mutations to the MeCP2 gene cause Rett Syndrome by impairing the interaction between MeCP2 and the NCoR/SMRT co-repressor.

First Prospective Study on the Effect of Shank3 Deficiency on Phelan-McDermid Syndrome

Source: 
Molecular Autism
Date Published: 
June 11, 2013
Abstract: 

ASF Scientific Advisory Board Member, Joe Buxbaum, directed the first prospective study on the effects of Shank3 deficiency on a subtype of autism called 22q13 Deletion Syndrome, also known as Phelan-McDermid Syndrome.

Individuals With Autism Have a Unique Gene Expression In Their Gastrointestinal Tissue.

Source: 
PLoS One
Date Published: 
March 8, 2013
Abstract: 

This Wake Forest Study compared the gene expression of gastrointestinal tissue in individuals with autism and compared it to individuals with Crohn's Disease, ulcerative colitis and a control group. The study showed those with autism had a unique gene expression in their gastrointestinal tissue compared to the other groups studied.

Neuronal Connectivity as a Convergent Target of Gene-environment Interactions that Confer Risk for Autism Spectrum Disorders

Source: 
Neurotoxicology and Teratology
Date Published: 
March, 2013
Abstract: 

This review briefly summarizes the evidence implicating dysfunctional signaling via Ca2 +-dependent mechanisms, extracellular signal-regulated kinases (ERK)/phosphatidylinositol-3-kinases (PI3K) and neuroligin–neurexin–SHANK as convergent molecular mechanisms in ASD, and then discusses examples of environmental chemicals for which there is emerging evidence of their potential to interfere with normal neuronal connectivity via perturbation of these signaling pathways.

Important Molecular Targets of the Autism-Linked RORA Gene Identified

Source: 
Molecular Autism
Date Published: 
May 22, 2013
Abstract: 

Scientists from George Washington University identified hundreds of molecular targets of the RORA gene. Of these molecular targets, 426 are linked to autism by the AutismKB database.

Sporadic Autism Exomes Reveal a Highly Interconnected Protein Network of De Novo Mutations

Source: 
Nature
Date Published: 
April 4, 2012
Abstract: 

Researchers demonstrate that de-novo point mutations are overwhelmingly paternal in origin (4:1 bias) and positively correlated with paternal age, consistent with the modest increased risk for children of older fathers to develop ASD.

Patterns and Rates of Exonic De Novo Mutations in Autism Spectrum Disorders

Source: 
Nature
Date Published: 
April 4, 2012
Abstract: 

Results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors.

Levels of Select PCB and PBDE Congeners in Human Postmortem Brain Reveal Possible Environmental Involvement in 15q11-q13 Duplication Autism Spectrum Disorder.

Source: 
Environmental and Molecular Genetics
Date Published: 
August 29, 2012
Abstract: 

These results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics.

Source: 
Cell
Date Published: 
March 16, 2012
Abstract: 

A proportion of risk for schizophrenia, bipolar disorder, and autism can be explained by rare mutations. Alleles can have specific effects on behavioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiatric phenotypes

Rate of De Novo Mutations and the Importance of Father’s Age to Disease Risk

Source: 
Nature
Date Published: 
August 23, 2012
Abstract: 

The diversity in mutation rate of SNP's is dominated by the age of the father at conception of the child. The effect is an increase of about two mutations per year.