A recent study suggests that biomarkers present in paternal sperm help identify men who are at risk of fathering children with autism.


Autistic boy receiving ABA therapy
(Photo : Kate Blais for U.S. Air Force. / Wikimedia Commons)
Autistic boy, works with behavioral therapist, to identify the letters A and B as part of a therapy program designed to treat autism spectrum disorder.

Research published on January 7 looks into DNA methylation in sperm that may be able to predict how susceptible men are to fathering children with an autism spectrum disorder.

The research is in its preliminary stages and requires more validation to determine the accuracy of the diagnostic tool.

What is Autism Spectrum Disorder?

Autism spectrum disorder or ASD is a developmental condition that involves challenges in speech and nonverbal communication, social interaction, and repetitive behaviors. The effects and severity of symptoms of autism vary from person to person.

It is first diagnosed in childhood during the first 2 to 3 years of life. According to the Center for Disease Control and Prevention, roughly 1 in 54 children are diagnosed with ASD. Autism occurs regardless of socioeconomic, race, or ethnicity and is 4 times more common in boys than girls.

Although the causes of ASD are still a mystery to scientists, it is linked to a complex combination of environmental and genetic factors. The age of the gather is a well-studied risk that suggests ASD risk increases by 28% if the father is between 40-49 years of age.

As humans age, genes can be switched on and off via environmental contributions or lifestyle influences. This process is called methylation. They do not signal changes in a person's DNA however it points to changes in gene expression--epigenetic changes.

A greater amount of epigenetic DNA methylation in sperm can be found as men age.

See Also: New Study Findings: Autism is Thrice More Common in Boys, and Vitamin D has Something to do with It


Studying Sperm DNA Methylation

Over the past decades, autism spectrum disorder has reportedly increased by tenfold and is predominantly associated with paternal transmission. Genetics is noted as a component of ASD but environmental epigenetics is also thought to be a key factor. 

The study is designed to identify DNA methylation signatures in paternal spurs as a potential biomarker in identifying offspring susceptibility to autism.

Researchers used sperm samples from 13 fathers who have children diagnosed with autism and 13 without ASD children.

The study concludes that a highly significant set of 805 DMRs--regions of DNA methylation-- in sperm can potentially act as a biomarker for men who have autism susceptible offsprings. Early-life paternal exposure is anticipated to alter germline epigenetics. This means molecular components are vital in ASD etiology.

Afterward, 18 men were brought into the study for blind tests to determine whether epigenetic patterns in sperm could tell which men fathered children with an autism spectrum disorder.

The biomarkers identified the men with 90% accuracy. Wherein only 2 delivered false positives.

Michale Skinner, author of the study from Washington State University, states that the team is working on validating epigenetic biomarkers on a larger scale.

The initial outcome of the study points towards the development of a diagnostic tool that will help parents evaluate the risks of ASD in their children.

Also Read: Research Shows Link Between Big Brains and Autism


Check out more news and information on Autism on Science Times.