Genetics

Study Ties Growth Factor to Autism

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
October 22, 2013
Abstract: 

Mutations in the autism-linked protein NHE6 may block the development of neuronal junctions by interfering with a growth factor called BDNF, according to a study published in the journal Neuron. The results suggest that drugs that enhance BDNF signaling could treat some forms of autism, the researchers say.

Autism and Epilepsy Cases Share Mutations

Source: 
Simons Foundation Autism Research Institute
Date Published: 
October 15, 2013
Abstract: 

About one-third of people with autism suffer from epilepsy. This overlap suggests that the two disorders may have a common origin — a theory borne out by examples of shared genetics. Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published in Nature. The study also found that many of the spontaneous mutations found in children with epilepsy overlap with those linked to autism and fragile X syndrome.

Researchers Grow Large Batches of Neurons for Drug Screening

Source: 
Simons Foundation Autism Research Institute
Date Published: 
October 9, 2013
Abstract: 

Researchers have optimized the production from stem cells of large numbers of a subtype of neurons involved in cognitive function. These neurons express the chemical messenger glutamate and are implicated in cognitive disorders such as autism. This technique, published in Translational Psychiatry, could generate enough neurons for large-scale screening of drugs.

Deleted Genes Offer Autism Clues

Source: 
American Journal of Human Genetics
Date Published: 
October 3, 2013
Abstract: 

Research published in the American Journal of Human Genetics found that people with ASDs often have just one copy of certain genes, when typically-developing people have two. This "mis-wiring" could alter the activity of nerve cells in the brain. The study found that the most commonly missing genes were linked to autophagy - a kind of waste-disposal and renewal process for cells. This study was led by Dr. Joseph Buxbaum, who is on ASF's Scientific Advisory Board.

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.