Epigenetic changes in key stress gene regulation detected in overinjured children

Epigenetic changes in the regulation of a key gene in the body’s stress-response system have been detected in babies and young children with abusive injuries, as opposed to accidental injuries, according to a pilot study published in the journal Pediatric research.

The epigenome influences gene expression levels in response to the physical, social and emotional environment, without altering the DNA sequence. Several studies in adults have shown that traumatic and negative childhood experiences are associated with epigenetic alterations in the FKBP5 gene, an important regulator of the stress response.

This study is the first to find epigenetic changes in the FKBP5 gene at the time of diagnosis in abuse cases, regardless of injury severity, socioeconomic status, or psychosocial risk factors.

The epigenetic differences we found in young children who suffered injuries from abuse were striking and may reflect prolonged toxic stress from living in a truly dangerous environment. Unfortunately, the story does not end there. Absolute stress is linked to adverse health effects in adulthood, and survivors of childhood abuse experience higher rates of cardiovascular disease, diabetes, cancer, as well as mental health issues. ”

Mary Clyde Pierce, MD, senior author, emergency physician at Ann & Robert H. Lurie Children’s Hospital in Chicago, and professor of pediatrics at Northwestern University Feinberg School of Medicine

In the United States, child abuse affects more than 650,000 children each year.

The study included 82 seriously injured children under the age of 4. A panel of experts categorized the injuries as abusive, accidental or undetermined. Cheek swabs and blood samples were collected to measure DNA methylation of the FKBP5 gene (a chemical change that regulates gene activity).

Dr. Pierce and his colleagues found that children with overinjury had lower methylation of the promoter area of ​​the FKBP5 gene, which generally correlates with increased gene expression.

“The dysregulation of the stress gene that we observed at diagnosis suggests that the biological response to abuse begins very early,” Dr. Pierce said. “It is possible, however, that early interventions may reverse epigenetic alterations in the stress system. Further research is needed to confirm our findings and potentially identify an epigenetic signature to see if the interventions work.”

Research at the Ann & Robert H. Lurie Children’s Hospital in Chicago is conducted by the Stanley Manne Children’s Research Institute. The Manne Research Institute is focused on improving the health of children, transforming pediatric medicine, and ensuring a healthier future through the relentless pursuit of knowledge. Lurie Children’s is ranked among the nation’s top children’s hospitals by US News & World Report. It is the pediatric training ground of the Northwestern University Feinberg School of Medicine. Emergency medicine-focused research at Lurie Children’s is conducted as part of the Grainger Research Program in Pediatric Emergency Medicine.