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What Is The Autism Gene

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What Might The Doctor Recommend For Your Child If You Have A Family Health History Of Autism Spectrum Disorder

Autism and Genetics

Knowing about your family health history of ASD can help your childs doctor better care for your child. The doctor may check your child more closely for early signs of ASD and might refer your child to a specialist for further evaluation. When a child is closely monitored, signs of ASD can sometimes be noticed at 18 months or youngerexternal icon. A reliable diagnosis of ASD is more common around 2 or 3 years of ageexternal icon and usually made by a developmental specialist. If a child is diagnosed at a young age with ASD, treatment is more effective. Also, a diagnosis of ASD is important for tailoring childrens education once they start school. Learn how early intervention leads to better outcomes for children with ASD.

If you are pregnant or planning a pregnancy, your doctor might recommend carrier screening if you have a family health history of a genetic disorder, such as fragile X syndrome.

Limitations Of Functional Imaging In Asd

Neuroimaging can help bridge the gap between genes, environment, and different ASD behavioral phenotypes. Although functional imaging techniques such as fMRI have revolutionized the understanding of various mental disorders, the fMRI technique also contains several limitations. The big challenge in current fMRI-based methods is the impact of age/gender and the development of scanning techniques for the diagnosis of ASD across heterogeneous populations. One of the limitations of fMRI is that it has no role in measuring the direct neuronal activity instead it provides changes in the signal based on the blood oxygen level, which may lead to the false-positive or -negative signal specially in patients with abrupt behavioral changes such as ASD. Secondly, an individuals performance on a specific task must be considered in a task-based fMRI and must be well-thought-out when analyzing the fMRI data. The fMRI data are also analyzed as group averages therefore, it is not straightforward to diagnose individual autistic patients. This could be par by introducing an individualized diagnostic model based on artificial intelligence.

What Causes Autism Researchers Id 102 Genes Linked To Condition

  • A large genetic study provided scientists with a greater understanding of how genes cause changes in the brain that lead to autism spectrum disorder.
  • Researchers analyzed more than 35,000 participant samples, including almost 12,000 from people with ASD.
  • Scientists believe that both genes and environment are involved in the development of ASD, with genetics playing a big part.

In the largest genetics study of its kind to date, scientists have identified 102 genes associated with the risk for autism spectrum disorder .

Researchers also gained further insight into which of these genes are associated with both ASD and other disorders that cause intellectual disability and developmental delay.

For the study, an international team of researchers analyzed more than 35,000 participant samples, including almost 12,000 from people with ASD.

Researchers used a genetic technique called exome sequencing, which looks at all the regions of a persons genetic information or genome that are translated into proteins. This testing can pick up rare genetic mutations that might not show up with other methods.

Dr. Lonnie Zwaigenbaum, a professor in the Department of Pediatrics and the Stollery Childrens Hospital Foundation Chair in Autism at the University of Alberta, called this an exciting study, both for the sophisticated methods used and the large sample size.

The study results were published January 23 in the journal Cell.

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What Disorders Are Related To Asd

Certain known genetic disorders are associated with an increased risk for autism, including Fragile X syndrome and tuberous sclerosis each of which results from a mutation in a single, but different, gene. Recently, researchers have discovered other genetic mutations in children diagnosed with autism, including some that have not yet been designated as named syndromes. While each of these disorders is rare, in aggregate, they may account for 20 percent or more of all autism cases.

People with ASD also have a higher than average risk of having epilepsy. Children whose language skills regress early in life before age 3 appear to have a risk of developing epilepsy or seizure-like brain activity. About 20 to 30 percent of children with ASD develop epilepsy by the time they reach adulthood. Additionally, people with both ASD and intellectual disability have the greatest risk of developing seizure disorder.

What Causes Autism Spectrum Disorder

What specific genes are involved in autism?

Although the cause of ASD is known in some people and not known in others, genetics, biology, and environment are all important factors. Having older parents, a difficult birth, or infections during pregnancy are all examples of factors that might increase the risk for having ASDexternal icon. Beyond these factors, certain people are at higher risk than others. For example, ASD is four times more common in males than femalesexternal icon. People with certain genetic disordersexternal icon, such as fragile X syndrome, tuberous sclerosisexternal icon, and Down syndrome, are more likely to have ASD.

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Where Do We Go From Here

Currently, multiple studies have established the genetic influence on autism as being around 74 to 98 percent. However, we have yet to find the exact nature and source of that influence. If there is a genetic link to autism, it wont be easy to find. But it also isnt impossible. The advances in technology weve seen in the past few decades have allowed us to progress farther than we ever have before. We have already been able to identify 65 strong, autism-associated genes, and were in the process of finding more. Each discovery guides us toward the ability to understand more cases of autism.

There are numerous programs in place that are exploring autism-associated genes, recurrent CNVs, and autism-associated cellular pathways and processes of the developing human brain. The results of these programs will provide further direction for future research into potential treatments as well as earlier diagnosis of autism and other ASDs.

Study Links Autism To New Set Of Rare Gene Variants

The effects of these newly identified genes are unknown, but some are associated with protein networks known to play a role in autism.

Researchers today report the finding of a new set of ultra-rare gene variants that increase a childs risk of developing autism.

These ultra-rare variants involve a set of genes that have not been associated with autism before, said Amy B. Wilfert, a senior research fellow in the Department of Genome Sciences at the University of Washington School of Medicine. She was the lead author of the report published July 26 in the journal Nature Genetics. Evan Eichler, UW professor of genome sciences, led the team that conducted the study.

The findings should help researchers better understand how the genetic risk of developing autism is inherited and how mutations in these variants might contribute to the disorder.

Autism, or autism spectrum disorder , affects about 1 in 59 children in the United States. The exact cause is unknown, but certain genes with deleterious mutation are known to increase the risk of developing the disorder.

To date, most research has focused on genes with mutations not found in the parents genomes but which originate in the sperm, the egg, or very early in the development of the fertilized egg. Such de novo variants have been shown to greatly increase a childs risk of developing ASD, but account for a relatively small percentage of cases.

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Plenty Of Genes Involved

Some genetic conditions are simple, and they stem from one unusual item found in one strand of DNA. Autism is much different, and that complexity makes the condition a lot harder to spot.

In January 2020, researchers published the results of a massive study that included:

  • A large study group. More than 35,000 people sent in samples for analysis.
  • ASD data. Of the 35,000 participants, almost 12,000 had autism spectrum disorder.
  • Gene sequencing. Testing methods picked up rare mutations that might stay masked with other methods.

Per the results, more than 102 genes were attached to autism risk. This is a huge number, and researchers suspect that the genes intertwine and intermingle.

Some of them are associated with other developmental delays. Others seem to increase the risk of neurodevelopmental disorders.

The researchers don’t yet know how the genes work, so parents can’t walk into a laboratory and ask for an autism gene screening. There is too much data to look for and a lot we don’t know.

But this study suggests that many genes, working together, could raise autism risks. That data could be helpful as researchers look for ways to treat, and perhaps even cure, ASD.

Scientists Uncover New Genetic Mutations Linked To Autism Spectrum Disorder

Is Autism Genetic? | Autism
Sanford Burnham Prebys Medical Discovery Institute
Scientists have identified mutations in a gene called CNOT1 that affect brain development and impair memory and learning. The research also revealed that CNOT1 interacts with several known autism spectrum disorder genes, opening new research avenues for the condition.

Scientists at Sanford Burnham Prebys Medical Discovery Institute and Radboud University Medical Center in the Netherlands have identified mutations in a gene called CNOT1 that affect brain development and impair memory and learning. The study is the first to link neurodevelopmental delays with CNOT1, suggesting that drugs that help restore the gene’s function may have therapeutic benefit. The research, published in The American Journal of Human Genetics, also revealed that CNOT1 interacts with several known autism spectrum disorder genes, opening new research avenues for the condition.

“Prior to this work, the CNOT1 gene was not on the radar of autism researchers,” says Rolf Bodmer, Ph.D., director and professor in the Development, Aging and Regeneration Program at Sanford Burnham Prebys and the study’s co-corresponding and co-senior author. “This discovery could help us better understand the genetic mechanisms underlying ASD. Our work is also a first step toward exploring drugs that could augment the function of CNOT1 and might be able to help children with neurodevelopmental delays who have these specific mutations.”

A common genetic thread

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Autism Is Not An Illness

Being autistic does not mean you have an illness or disease. It means your brain works in a different way from other people.

It’s something you’re born with or first appears when you’re very young.

If you’re autistic, you’re autistic your whole life.

Autism is not a medical condition with treatments or a “cure”. But some people need support to help them with certain things.

What About Environmental Factors

For starters, we cant count environmental factors out of the equation. Genetics clearly does not account for all autism risk. Although multiple studies have proven that certain environmental factors, such as vaccinations to prevent childhood infectious diseases, in fact do NOT increase the risk of autism, there is still much research to be done to determine the potential role of environmental factors that might increase that risk. Some environmental factors that are being investigated include exposure to a maternal immune response in the womb, parental age, and complications during birth. Scientists believe both genetics and the environment likely play a role in the development of autism and other ASDs.

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Where Can I Get More Information

For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network at:

Office of Communications and Public LiaisonNational Institute of Neurological Disorders and StrokeNational Institutes of HealthBethesda, MD 20892

NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient’s medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Converging Circuits And Common Pathways

The Hunt for Autism Genes

Convergence of pathways may be assessed at many levels, ranging from molecular mechanisms to brain circuitry. The earliest synthetic molecular model was based on the notion that the primary area of convergence in ASD was the postnatal, experience-dependent development of the synapse . This was a highly productive model based on several forms of Mendelian mutations in ASD, which has led to successful exploration of synaptic scaffolding molecules and other synaptic genes as ASD susceptibility genes . Interestingly, because many mRNA for synaptic genes are alternatively spliced, and the proteins regulated by ubiquitination, this paper was prescient in predicting alterations in mRNA splicing and ubiquitination pathways that have since been identified . Nevertheless, since the synapse is integral to the function of all neurons, how the cognitive and behavioral specificity of ASD emerges, distinct from ID or other synaptic disorders, is not yet explained by this molecularly focused model.

Convergence of genes on neural systems

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Is There A Cure For Asd

The short answer to this is no, but there are many treatments and support services available that do improve overall function. Behavioral, speech, occupational, and physical therapies are all recommended by the American Academy of Pediatrics to help children with ASD to reach their full potential. Support from schools and governments may vary depending on location and families may find it useful to explore resources in their local area as well as online support groups . Dr. Beaudet shares that there are often ASD support groups locally in large cities and, although it is not a cure or treatment, he has seen many families benefit from interacting with these support groups and meeting other families going through the same situation.

Rare Gene Variants Passed On From Parents May Significantly Increase Risk Of Autism

Autisms cause is not something science has completely figured out yet. Studies have discovered several different links which appear to play a role in children developing the condition. Now, researchers have identified a rare class of genetic differences that parents without autism pass on to their children. The study finds these variants make it significantly more likely for the child to develop autism.

A team working with the Simons Foundation in New York adds this hereditary link is especially prominent among multiplex families, where other members of that family have autism, even if the parents of that particular child do not.

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Collection Process And Use

The content of MIM/OMIM is based on selection and review of the published biomedical literature. Updating of content is performed by a team of science writers and curators under the direction of Dr. Ada Hamosh at the McKusick-Nathans Institute of Genetic Medicine of Johns Hopkins University. While OMIM is freely available to the public, it is designed for use primarily by physicians and other health care professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.

The database may be used as a resource for locating literature relevant to inherited conditions, and its is widely used in the medical literature to provide a unified index for genetic diseases.

Tracing Mosaic Mutations In The Brain

Autism Genetic Research Breakthrough

The two studies, published Jan. 11 in Nature Neuroscience, document two kinds of mosaic mutations in people with autism. The first study, led by Drs. Rachel Rodin and Christopher Walsh of Boston Childrens Hospital and Drs. Yanmei Dou and Peter Park of Harvard Medical School, looked at point mutations, which affect a single letter of the genetic code.

The researchers obtained brain tissue from 59 deceased people with autism spectrum disorder and 15 controls the largest set of such samples ever studied. They then sampled multiple brain cells and sequenced each cells entire genome.

It turned out that most of the brains had point mutations in a mosaic pattern. In fact, the team estimates that about half of us carry mosaic mutations in at least 2 percent of our brain cells.

But in people on the autism spectrum, the mosaic mutations tended to land in special portions of DNA known as enhancers. These are key to the functioning of brain cells because they regulate whether a gene is turned on or off.

In the brains of people with autism, mutations accumulate during development at the same rate as other peoples, but they are more likely to fall into an enhancer region, explains Dr. Rodin. We think gene enhancers are more susceptible to mutations during cell division in the embryo, because they tend to be in DNA thats more physically exposed.

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Bioinformatics And Clinical Interpretation


Clinical interpretation

We provide customers with the most comprehensive clinical report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists, medical geneticists and clinical consultants prepare the clinical statement together by evaluating the identified variants in the context of the phenotypic information provided in the requisition form. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals regardless of whether they have formal training in genetics.

Variant classification is the corner stone of clinical interpretation and resulting patient management decisions. Our classifications follow the ACMG guideline 2015.

The final step in the analysis is orthogonal confirmation. Sequence and copy number variants classified as pathogenic, likely pathogenic and variants of uncertain significance are confirmed using bi-directional Sanger sequencing by orthogonal methods such as qPCR/ddPCR when they do not meet our stringent NGS quality metrics for a true positive call.

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