In a small study, Johns Hopkins researchers found that DNA from the sperm of men whose children had early signs of autism shows distinct patterns of regulatory tags that could contribute to the condition. A detailed report of these new findings was published online on April 14, 2015 in an open-access article in the International Journal of Epidemiology. The article is titled “Paternal Sperm DNA Methylation Associated with Early Signs of Autism Risk in an Autism-Enriched Cohort.” Autism spectrum disorder (ASD) affects one in 68 children in the U.S. Although studies have identified some culprit genes, most cases remain unexplained. But most experts agree that autism is usually inherited, because the condition tends to run in families. In this study, investigators looked for possible causes for the condition not in genes themselves, but in the "epigenetic tags" that help regulate genes' activity. "We wondered if we could learn what happens before someone gets autism," says Andrew Feinberg, M.D., M.P.H., the King Fahd Professor of Molecular Medicine and Director of the Center for Epigenetics at the Johns Hopkins University School of Medicine. "If epigenetic changes are being passed from fathers to their children, we should be able to detect them in sperm," adds co-lead investigator Daniele Fallin, Ph.D., Professor and Chair of the Department of Mental Health in the Bloomberg School of Public Health and director of the Wendy Klag Center for Autism and Developmental Disabilities. In addition to being easier to sample than egg cells from women, sperm are more susceptible to environmental influences that could alter the epigenetic tags on their DNA. Dr. Feinberg, Dr. Fallin, and their team assessed the epigenetic tags on DNA from sperm from 44 dads.
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