Inherited Causes of Autism
Published : 2013-01-24 - Updated : 2021-06-03
Author : Cell Press - Contact: cell.com
Synopsis: Studies focus on identifying inherited genetic mutations linked with autism spectrum disorders. These two studies firmly establish that recessive mutations contribute importantly to autism, not just in specialized populations but in the population at large. Identifying the various genes that are silent or partially disabled in autism cases can provide key clues to understanding the underlying biology of autism spectrum disorders and potentially help generate new therapies.
The most consistent finding of autism research lies in the revelation that the disorders are incredibly complex.
Two new studies in the January 23 issue of the Cell Press journal Neuron that add to the growing appreciation of this complexity focus on identifying inherited genetic mutations linked with autism spectrum disorders. The mutations - which are distinct from the spontaneous mutations that have been the focus of previous studies - may provide valuable insights into the causes of autism.
"It's long been known that autism is a heritable condition and that some cases appear to run in families. Our studies are among the first to begin to address this heritable component," says Dr. Christopher Walsh of Boston Children's Hospital, who is the senior author of one of the papers.
Both groups sequenced the portion of the genome that codes for proteins, also known as the exome, in individuals with autism, their relatives, and controls. In one study, investigators focused on rare mutations that completely abolish the function of particular genes - and therefore the expression of a protein.
"We utilized new genome-sequencing technologies to discover a component of autism that can be traced to recessive inheritance - that is, when a child inherits two broken copies of the same gene, one from each parent who is a carrier," explains senior author Dr. Mark Daly of Massachusetts General Hospital and the Broad Institute.
"There were twice as many autism cases as control individuals that were apparently missing an important protein somewhere in the genome," he adds. Their findings suggest that 5% of autism risk is linked to inherited mutations that completely disrupt the functions of genes.
Like Dr. Daly and his colleagues, Dr. Walsh and his team identified and characterized cases of autism due to the inheritance of two gene mutations, one from each parent. In this work, though, the researchers found that the partial loss of a gene's function - not only complete absence of function - is linked to autism spectrum disorders. They identified several genes - such as those involved in neuro-metabolic pathways - that were not previously associated with autism risk, and they revealed a striking variability of autism severity despite inheritance of similar genetic mutations.
"These two studies firmly establish that recessive mutations contribute importantly to autism, not just in specialized populations but in the population at large," says first author Dr. Timothy Yu, of Boston Children's Hospital.
With follow-up work, identifying the various genes that are silent or partially disabled in autism cases can provide key clues to understanding the underlying biology of autism spectrum disorders and potentially help generate new therapies.
Neuron, Yu et al.: "Using whole exome sequencing to identify inherited causes of autism."
Neuron, Lim et al.: "Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders."
Inherited Causes of Autism | Cell Press (cell.com). Disabled World makes no warranties or representations in connection therewith. Content may have been edited for style, clarity or length.
You're reading Disabled World. See our homepage for informative disability news, reviews, sports, stories and how-tos. You can also connect with us on social media such as Twitter and Facebook or learn more about Disabled World on our about us page.
Disclaimer: Disabled World provides general information only. Materials presented are in no way meant to be a substitute for professional medical care by a qualified practitioner, nor should they be construed as such. Any 3rd party offering or advertising on disabled-world.com does not constitute endorsement by Disabled World. View our Advertising Policy for further information. Please report outdated or inaccurate information to us.
Cite Page: Journal: Disabled World. Language: English (U.S.). Author: Cell Press. Electronic Publication Date: 2013-01-24 - Revised: 2021-06-03. Title: Inherited Causes of Autism, Source: <a href=https://www.disabled-world.com/health/neurology/autism/insight.php>Inherited Causes of Autism</a>. Retrieved 2021-06-19, from https://www.disabled-world.com/health/neurology/autism/insight.php - Reference: DW#293-9526.