Genetics

The Genetic Variability and Commonality of Neurodevelopmental Disease

Submitted by smillman on June 7, 2013 - 11:02
Source: 
American Journal of Medical Genetics; Part C, Seminars in Medical Genetics
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/?term=The+genetic+variability+and+commonality+of+neurodevelopmental+disease
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.

Submitted by smillman on June 7, 2013 - 10:56
Source: 
Proceedings of the National Academy of Sciences of the United States of America
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/?term=A+common+X-linked+inborn+error+of+carnitine+biosynthesis+may+be+a+risk+factor+for+nondysmorphic+autism.
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

Submitted by smillman on June 6, 2013 - 14:50
Source: 
Science Translational Medicine
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/?term=Negative+allosteric+modulation+of+the+mGluR5+receptor+reduces+repetitive+behaviors+and+rescues+social+deficits+in+mouse+models+of+autism
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

Submitted by shansen on June 4, 2013 - 14:00
Source: 
Neuron
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22958829
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

Submitted by smillman on June 4, 2013 - 09:18
Source: 
Nature: Neuroscience
Link: 
http://www.nature.com/neuro/journal/vaop/ncurrent/full/nn.3415.html
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

Submitted by smillman on June 3, 2013 - 11:08
Source: 
Nature
Link: 
http://www.nature.com/tp/journal/v3/n5/full/tp201338a.html
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

Submitted by djohnson on April 23, 2013 - 12:39
Source: 
Molecular Psychiatry
Link: 
http://www.nature.com/mp/journal/vaop/ncurrent/full/mp201341a.html
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

Submitted by nlombardi on April 7, 2013 - 13:46
Source: 
Nature Reviews: Genetics
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22805709
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.

Global Increases in Both Common and Rare Copy Number Load Associated with Autism

Submitted by djohnson on April 4, 2013 - 17:23
Source: 
Human Molecular Genetics
Link: 
http://hmg.oxfordjournals.org/content/early/2013/03/26/hmg.ddt136.abstract
Date Published: 
March 27, 2013
Abstract: 

Penn State researchers link autism to increased genetic change in "hotspots", regions of the genome that are highly susceptible to mutation.

Autism Risk Across Generations A Population-Based Study of Advancing Grandpaternal and Paternal Age

Submitted by djohnson on March 28, 2013 - 09:15
Source: 
JAMA Psychiatry
Link: 
http://archpsyc.jamanetwork.com/article.aspx?articleid=1666654
Date Published: 
March 20, 2013
Abstract: 

Recently published in JAMA Psychiatry, this study put forth a new autism risk factor: advanced grandpaternal age. Compared to men who had children between 20 and 24, men who fathered a child at 50+ were 1-2 times more likely to have a grandchild with autism. The findings suggest some autism risk factors can accumulate over generations.