Results from a small study have shown that the sperm of fathers whose children had early signs of autism show specific “epigenetic tags” that could contribute to the condition. Findings of the study are published in the International Journal of Epidemiology.

Researchers from Johns Hopkins University investigated possible causes of autism not in the actual genes, but in the epigenetic tags that help regulate genes’ activity. The team evaluated epigenetic tags on DNA from sperm for 44 fathers that were part of an ongoing study that looked at factors affecting a child early on, before he or she is diagnosed with autism. Each sperm sample was assessed for epigenetic tags at 450,000 different positions throughout the genome. These were then compared to the possibility of a tag being in a particular site with Autism Observation Scale for Infants (AOSI) scores.

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Researchers found that many of the genes near the 193 identified sites were those particularly involved in neural development. Four of the 10 sites most strongly associated to the AOSI scores were located near genes linked to Prader-Willi syndrome. Other modified epigenetic patterns were also found in brains of individuals with autism.

A future study involving more families will look at the occupations and environmental exposures of the fathers involved.

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