Genetics

Patches of Disorganization in the Neocortex of Children with Autism

Source: 
New England Journal of Medicine
Date Published: 
March 26, 2014
Abstract: 

New evidence suggests that autism begins in the brain before birth when brain cells fail to develop properly. In this study, the abnormalities in the brain cells were not uniform, showing autism's wide range of symptoms and severity. This better understanding of prenatal development of the brain cells of people with autism underscores the importance of early identification and intervention.

New Technique Finds Mutant Cells in a Haystack

Source: 
Simons Foundation Autism Research Initiative
Date Published: 
March 19, 2014
Abstract: 

Researchers have developed a method to isolate a single mutant cell from thousands of others, they reported in the March issue of Nature Methods. The new approach will allow researchers to precisely engineer and study human cells without altering the genome. Ultimately, the method could be used to alter an individual’s cells before returning them to his or her body.

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Source: 
American Journal of Human Genetics
Date Published: 
February 27, 2014
Abstract: 

Researchers have more clues as to why more boys than girls are diagnosed with Autism Spectrum Disorder. A new study in the American Journal of Human Genetics suggests that for boys, it takes less of a genetic hit to cause autism than it does for girls. The study continues to say that when it does appear in girls, it is due to a much more severe genetic hit, usually resulting in much more severe autism symptoms.

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.