Genetics

Induced Neuron Cell Line Resembles Immature, Healthy Neurons

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
February 12, 2014
Abstract: 

A commercially available line of neurons generated from induced stem cells would serve as a good control for autism research, according to a study published in Psychopharmacology. Characterizing these neurons in detail shows that they express most of the genes linked to autism and look like typical, albeit immature, cells. Induced pluripotent stem cells, or iPSCs, are skin or blood cells reverted to a state from which they can become any cell in the body. Researchers can use the technique to turn cells from people with a neuropsychiatric disorder into neurons. They can then compare the neurons with those from controls to gain understanding of the disorder.

Study Pinpoints Autism Gene in Mutation-Prone Region

Source: 
Simons Foundation Autism Research Institute
Date Published: 
January 27, 2013
Abstract: 

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published in the Proceedings of the National Academy of Sciences. The 15q13.3 chromosomal region is a hotbed of tiny genetic deletions and duplications connected to disorders of brain development.

RNA Bits Vary in Social, Auditory Brain Areas in Autism

Source: 
Simons Foundation Autism Research Institute
Date Published: 
November 14, 2013
Abstract: 

People with autism show differences from controls in the levels of microRNAs, small noncoding bits of RNA, in the social and sound-processing parts of the brain. MicroRNAs, or miRNAs, bind to messenger RNAs, which code for protein, and flag them for degradation. Each miRNA can interfere with the production of several proteins. Of the more than 5,000 miRNAs and other small noncoding RNAs that the researchers screened, they found 3 miRNAs that are dysregulated in these regions in people with autism compared with controls.

Yale Researchers Find Genetic Links to Autism

Source: 
Cell
Date Published: 
November 21, 2013
Abstract: 

Scientists at Yale have identified which types of brain cells and regions of the brain are affected by genetic mutations linked to autism spectrum disorders. Researchers state that this new discovery has the potential for new types of autism treatments. We may not need to treat the whole brain, they say; only particular areas of the brain may be affected by autism at certain times.

Genetic Analysis Links Autism to Missing Brain Structure

Source: 
Simons Foundation Autism Research Institute
Date Published: 
November 14, 2013
Abstract: 

The largest genetic analysis yet conducted of people lacking a brain structure called the corpus callosum shows that the condition shares many risk factors with autism. The study was published PLoS Genetics. The corpus callosum is the thick bundle of nerve fibers that connects the two hemispheres of the brain. People lacking this structure, a condition called agenesis of the corpus callosum (AgCC), often have social impairments, and roughly one-third of adults meet diagnostic criteria for autism. Children with autism seem to have a smaller corpus callosum than controls do.

Genetic Link Between Family Members with Autism and Language Impairment

Source: 
American Journal of Psychiatry
Date Published: 
October 30, 2013
Abstract: 

New research shows a genetic link between individuals with autism and family members with specific speech and language difficulties otherwise unexplained by cognitive or physical problems. Researchers discovered that genes in a small region of two chromosomes can lead to one family member developing autism and another family member only developing language impairment.

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.