Genetics

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.

A Novel Approach of Homozygous Haplotype Sharing Identifies Candidate Genes in Autism Spectrum Disorder

Source: 
Human Genetics
Date Published: 
April, 2012
Abstract: 

A large scale analysis identifies candidate genes which may contain low-frequency recessive variations contributing to ASD

The Genetic Variability and Commonality of Neurodevelopmental Disease

Source: 
American Journal of Medical Genetics; Part C, Seminars in Medical Genetics
Date Published: 
May 15, 2012
Abstract: 

Copy Number Variations suggest that the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes

A Common X-linked Inborn Error of Carnitine Biosynthesis May be a Risk Factor for Nondysmorphic Autism.

Source: 
Proceedings of the National Academy of Sciences of the United States of America
Date Published: 
May 22, 2012
Abstract: 

These data suggest that dysregulation of carnitine metabolism may be important in nondysmorphic autism; that abnormalities of carnitine intake, loss, transport, or synthesis may be important in a larger fraction of nondysmorphic autism cases; and that the carnitine pathway may provide a novel target for therapy or prevention of autism.

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

Source: 
Science Translational Medicine
Date Published: 
April 25, 2012
Abstract: 

Using a mouse model with behaviors relevant to the three diagnostic behavioral symptoms of autism, researchers used a genetic approach to reduce repetitive behaviors and partially reverse the striking lack of sociability in these mice.

Autism-associated Promoter Variant in MET Gene Impacts Functional and Structural Brain Networks

Source: 
Neuron
Date Published: 
September 6, 2012
Abstract: 

The MET gene is shown to be a "potent modulator of key social brain circuitry in children and adolescents." Researchers found that effects of high MET gene expression is more pronounced in individuals with ASD.

FMR1 Knockout Mice Observed to have Hyperactive Neural Firing Rates

Source: 
Nature: Neuroscience
Date Published: 
June 2, 2013
Abstract: 

Researchers at UCLA observed hyperactive firing rates in the brains of FMR1 knockout mice; mice engineered to have symptoms similar to those in ASD and Fragile X syndrome.

New Gene Variants Linked to Autism

Source: 
Nature
Date Published: 
May 28, 2013
Abstract: 

A new study using families from the Autism Genetic Resource Exchange (AGRE) finds that individuals with autism are 20% more likely to have copy-number variations of specific genes.

Methylomic Analysis of Monozygotic Twins Discordant for Autism Spectrum Disorder and Related Behavioural Traits

Source: 
Molecular Psychiatry
Date Published: 
April 23, 2013
Abstract: 

This study suggests environmentally driven changes to the epigenome may contribute to the development of ASD and ASD-related behaviors. The study, which involved identical twins who were discordant for ASD and related traits, is the first large-scale examination of the role of genome-wide DNA methylation in ASD.

De Novo Mutations in Human Genetic Disease

Source: 
Nature Reviews: Genetics
Date Published: 
July 18, 2012
Abstract: 

The influence of genetic mutations on the burden of any genetic disease can usefully be determined using family-based whole-genome or whole-exome sequencing approaches.