Genetics

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.

Scientists Link Evolved, Mutated Gene Module to Syndromic Autism

Source: 
Science Daily
Date Published: 
January 26, 2012
Abstract: 

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.

New Research Suggests Birth Weight Plays A Role In Autism Spectrum Disorder

Source: 
Medical News Today
Date Published: 
January 23, 2012
Abstract: 

Although the genetic basis of autism is now well established, a growing body of research also suggests that environmental factors may play a role. Using a unique study design, a new study suggests that low birth weight is an important environmental factor contributing to the risk of autism spectrum disorder (ASD).

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.

NIMH’s Top 10 Research Advances of 2011

Source: 
NIMH
Date Published: 
December 23, 2011
Abstract: 

Director of the NIMH Dr. Tom Insel shares the NIMH's Top 10 Research Advances for 2011.

Autism May Involve Disordered White Matter in the Brain

Source: 
Science Daily
Abstract: 

While it is still unclear what's different in the brains of people with autism spectrum disorders, more and more evidence from genetic and cell studies points to abnormalities in how neurons connect to each other.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Source: 
Medical News Today
Date Published: 
November 25, 2011
Abstract: 

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

Mutations Causing Syndromic Autism Define an Axis of Synaptic Pathophysiology

Source: 
Nature
Date Published: 
November 23, 2011
Year Published: 
2011

New research reveals that two genetic forms of autism, fragile X syndrome and tuberous sclerosis, are actually caused by opposite malfunctions – while fragile X is caused by overproduction of proteins at the synapse, tuberous sclerosis is caused by underproduction. Interestingly, while the causes of fragile X and tuberous sclerosis are distinctly different, both disorders often result in intellectual disability and autism spectrum disorder. Researchers made the discovery while studying mGluR5 (Metabotropic glutamate receptor 5), a receptor on the surface of neurons that is key in aiding communication at the synapse – the junction between neurons. During normal signaling, the mGluR5 receptor binds to the neurotransmitter glutamate after it is released across the synapse, resulting in the production of new synaptic proteins. Fragile X protein (FMRP) halts protein synthesis to ensure that the appropriate amount is produced -- in fragile X syndrome, changes to the gene that controls FMRP allow synaptic proteins to continue production unchecked, resulting in too much protein. Researchers have previously shown that introducing a substance to block mGluR5 reverses some of the symptoms of fragile X, and human drug trials are currently underway. Armed with an understanding of the underlying causes of fragile X, researchers in this study examined mice with tuberous sclerosis mutations and discovered something surprising. In this case, the disorder was caused by the opposite malfunction – too little protein synthesis at the synapse, which could be treated with a drug stimulating mGluR5. Further, when the researchers bred the two mice together, many of their autistic features went away. The findings of the study indicate that proper brain function can only occur within a narrow range of mGluR5 protein synthesis – changes in either direction lead to syndromes with similar behavioral symptoms. This also suggests that drug treatments for autism spectrum disorder will need to be individually tailored, as conditions that appear similar may have quite different underlying causes.

--IACC 2011 Summary of Advances in ASD Research

How Brain's Structure And Genes Affect Autism And Fragile X Syndrome

Source: 
Medical News Today
Date Published: 
November 17, 2011
Abstract: 

Research just released shows that scientists are finding new tools to help understand neurodevelopmental disorders like autism and fragile X syndrome.

Researchers debut SHANK2 mouse, SHANK3 rat

Source: 
SFARI
Abstract: 

Researchers debut the SHANK2 mouse and SHANK3 rat at the 2011 Society for Neuroscience annual meeting. SHANK2 belongs to the same family as SHANK3, a well-established autism candidate gene.