Paternal Sperm Could Hold Autism Clues

By Digitalkil (Own work) [Public domain], via Wikimedia Commons

In a small research study performed by researchers at Johns Hopkins, it was found that DNA from the sperm of men who had children with early autism signs had a distinct pattern of regulatory tags which may contribute to the disorder. A detailed report of the study will be published in the April 15th, 2016 online edition of the International Journal of Epidemiology.

Autism Tags

Most experts agree autism is usually inherited, since the disorder generally runs in families. In this particular study, investigators probed for possible reasons for the condition, but not within the genes themselves, but through the “epigenetic tags” that help regulate genes’ activity.

The Study

Autism spectrum disorder is way more common than it used to be, it affects one in 68 children in the U.S. Even though some studies have identified some culprit genes, most cases are still unexplained. While most experts agree autism is usually inherited, the team from Johns Hopkins wanted to look deeper.

Dr. Andrew Feinberg, M.D., M.P.H., of the King Fahd Professor of Molecular Medicine and director of the Center for Epigenetics at the Johns Hopkins University School of Medicine, states, “We wondered if we could learn what happens before someone gets autism. If epigenetic changes are being passed from fathers to their children, we should be able to detect them in sperm.”

Additionally, it is easier to sample sperm than it is egg cells from a woman. Sperm cells are more susceptible to environmental influences that might alter the epigenetic tags on their DNA. Dr. Feinberg and his colleagues sampled DNA from the sperm of 44 fathers. The men were part of an ongoing study to assess the different things that influence a child early on, before he or she may be diagnosed with autism. The study enrolls pregnant women who have already had a child with autism and the team collected information and biological samples from the mothers, the baby’s father and the infants themselves, after birth. Early in a woman’s pregnancy, a sperm sample was collected from the fathers enrolled into the study. One year after the child was born, they were assessed for early signs of autism using the Autism Observation Scale for Infants (AOSI).

The team collected DNA from each sperm sample and searched for epigenetic tags at 450,000 different positions throughout the genome. They compared the likelihood of a tag being in a specific site with the AOSI scores of each child. The team found 193 different sites where the presence of the absence of a tag was directly related to the AOSI scores of an infant.

When the team reviewed the genes near these sites, they found many of them were closely related to genes that are involved in developmental processes, particularly neural development. Of particular interest to researchers was that four of the ten sites most strongly related to AOSI scores were located near genes which share some behavioral symptoms with autism.

Conclusion of the Study:

The Johns Hopkins team plans on confirming the results of this study by using more families and looking at the occupations and environmental exposures of the fathers. Right now, there is no current genetic or epigenetic test available to assess a child for the risk of autism.

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