Type of Gene Mutation Determines ASD Symptoms Diversity in symptom type and severity in people with autism spectrum disorder can be traced to differences in genetic mutations, according to a large-scale analysis of hundreds of patients and nearly 1000 genes that appears in Nature Neuroscience. Researchers at Columbia University Medical Center, including senior author Dennis Vitkup, analyzed ... Research in Brief
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Research in Brief  |   February 01, 2015
Type of Gene Mutation Determines ASD Symptoms
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Special Populations / Genetic & Congenital Disorders / Autism Spectrum / Research in Brief
Research in Brief   |   February 01, 2015
Type of Gene Mutation Determines ASD Symptoms
The ASHA Leader, February 2015, Vol. 20, online only. doi:10.1044/leader.RIB7.20022015.np
The ASHA Leader, February 2015, Vol. 20, online only. doi:10.1044/leader.RIB7.20022015.np
Diversity in symptom type and severity in people with autism spectrum disorder can be traced to differences in genetic mutations, according to a large-scale analysis of hundreds of patients and nearly 1000 genes that appears in Nature Neuroscience.
Researchers at Columbia University Medical Center, including senior author Dennis Vitkup, analyzed genetic and clinical data on hundreds of patients with ASD from the Simons Simplex Collection.
The group found that more damaging genetic mutations usually lead to worse disease outcomes. “It looks as if high-IQ autism cases are usually triggered by milder mutations,” said Vitkup, associate professor of systems biology and biomedical informatics at Columbia University’s College of Physicians & Surgeons.
Patients with low-verbal or nonverbal IQs usually had mutations in genes that are more active in the brain. And high-IQ individuals were less likely to have mutations that completely shut down genes—instead, mutations that only partially damage normal gene function in the brain appear to be predominantly associated with high-functioning ASD.
Gender differences in autism could also be traced to the types of genes mutated in the individual. The researchers found that the genes mutated in females generally had greater activity throughout the brain than those mutated in males. Very damaging ASD mutations in girls tend to be in genes that are almost twice as active as typical genes in normal brains.
Behavioral variability may also stem from the types of brain cells affected. Researchers identified these cells by looking at the normal activity of autism-related genes in dozens of similar cell types in mouse brains, and found that many different types of neurons throughout the brain are affected by mutations in autism genes.
Certain neurons, however, appear to be more affected than others. The researchers found strong effects in cortical and striatal neurons that form a circuit associated with repetitive motions and behaviors (such as rocking), an insistence on sameness, and restricted interests.
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February 2015
Volume 20, Issue 2