Genetics

Grandfather's Age Linked to Autism

Source: 
JAMA Psychiatry
Date Published: 
August 1, 2013
Abstract: 

A new study published in JAMA Psychiatry found that men who fathered children at age 50 or older were nearly twice as likely to have a grandchild with autism compared to men who had children at a younger age. The study focused on age-related aspects and sought to control any other variables, such as socioeconomic status.

Autism Genes are Surprisingly Large, Study Finds

Source: 
Simons Foundation Autism Research Institute
Date Published: 
September 16, 2013
Abstract: 

In a study recently published in the journal Nature, researchers discovered that autism genes are three to four times longer than the average gene expressed in neurons. According to the study, most mutations found in long genes tend to be discounted due to the fact that long genes generally have a higher probability of having a mutation, but the study says researchers think mutations in long genes should be looked at more carefully from now on.

In Autism, Head and Body Size Varies with Gender

Source: 
Simons Foundation Autism Research Institute
Date Published: 
August 29, 2013
Abstract: 

Girls with autism tend to have smaller heads and bodies than their typically developing peers, whereas boys with the disorder tend to have average-sized heads and slightly larger bodies, report two recent studies. This shows another way that autism affects males and females differently.

Researchers Discover a Potential Cause of Autism

Source: 
Natue
Date Published: 
August 28, 2013
Abstract: 

Researchers at UNC have discovered that problems with a key group of enzymes known as topoisomerases can have profound effects on the genetic machinery behind brain development and potentially lead to autism spectrum disorder. Researchers believe this finding represents a great step forward in the search for environmental factors behind autism.

Information on this study at UNC can be found at
http://news.unchealthcare.org/news/2013/august/researchers-discover-a-potential-cause-of-autism

Autism’s Unexpected Link to Cancer Gene

Source: 
The New York Times
Date Published: 
August 11, 2013
Abstract: 

Researchers have recently discovered that two seemingly unrelated conditions, autism and cancer, share an unexpected connection. Some people with autism have specific mutated cancer or tumor genes that scientists believe caused their autism. While this does not apply to all people with autism, just the ones with the mutated gene, it is a very illuminating discovery in the field.

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities.

Source: 
Cold Spring Harb Perspect Biol
Date Published: 
March 1, 2012
Year Published: 
2012
Abstract: 

The human studies unveiled the sensitivity of cognitive function to precise levels of different proteins.

Majority of Individuals with SHANK3 Gene Problems Have Both Autism and Severe Intellectual Disability

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

Prospective study of 22q13 deletion syndrome and SHANK3 deficiency shows that the majority of individuals with a SHANK3 deficiency show both signs of autism and severe intellectual disability.

Genetic Variations in Chromosome 16 Region Affect More Males with Autism Than Females

Source: 
PLoS One
Date Published: 
April 18, 2013
Abstract: 

London study finds a higher rate of gene variations in the chromosome 16 region in males with autism compared to females.

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.