Autism Predicted By Sperm Biomarkers

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Autism linked to Presence of Sperm Biomarkers
  • According to the CDC, the prevalence of Autism Spectrum Disorder in 2014 was 1 in 68.
  • Scientists at Washington State University have identified biomarkers in sperm that can predict whether or not the child will develop autism.
  • Using a set of blind tests, the researchers predicted autism susceptibility in offspring with an accuracy of 90%.

Over the past few decades, the prevalence of Autism Spectrum Disorder (ASD) has increased over tenfold. Scientists blame the insurgence on a combination of environmental and genetic factors. Furthermore, the paternal transmission of ASD is higher than maternal transmission. Therefore, scientists at Washington State University analyzed sperm epigenetics to assess autism susceptibility in offspring. They published their findings in the journal Clinical Epigenetics.

We found out years ago that environmental factors can alter the germline, the sperm or the egg, epigenetics. With this tool, we could do larger population-based studies to see what kinds of environmental factors may induce these types with epigenetic changes.

Michael Skinner, professor of biological sciences at Washington State University

Susceptibility to Autism Predicted with 90% Accuracy

The team of researchers collected sperm samples from fathers who had fathered autistic children and those who had not. Each group consisted of a total of 13 men. They specifically analyzed the sperm for regions of DNA methylation that can serve as biomarkers for autism susceptibility.

In other words, DNA methylation is a process wherein a methyl group is added to a DNA molecule. Although the gene sequence is not affected, it does affect gene expression; turning the genes on or off. The researchers identified a total of 805 DNA methylation regions that can act as potential biomarkers. They then conducted a blind test in which they tried to predict whether or not the men had autistic children; using their findings of potential biomarkers. Consequently, they correctly identified the fathers of autistic children with an accuracy of 90%.

We can now potentially use this to assess whether a man is going to pass autism on to his children. It is also a major step toward identifying what factors might promote autism.

Michael Skinner, professor of biological sciences at Washington State University

Although the findings are based on small sample size, the link between sperm biomarkers and autism is a huge step in learning the causative factors of this complex condition. Furthermore, scientists believe that identification of autism susceptibility can likely improve patient outcomes and help in the management of the condition. However, further trials are needed to validate these findings.

Reference:

Garrido, N., Cruz, F., Egea, R.R. et al. Sperm DNA methylation epimutation biomarker for paternal offspring autism susceptibility. Clin Epigenet 13, 6 (2021). https://doi.org/10.1186/s13148-020-00995-2

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