Summary: Study reports of epigenetic changes in the FKBP5 gene, a key gene associated with regulating the stress response in the body, in babies and young children who were injured from abuse, but not injured accidental.
Source: Ann and Robert H. Lurie Children’s Hospital of Chicago
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,” said lead author Mary Clyde Pierce, MD, emergency physician at Ann & Robert H. Lurie. Children’s Hospital of Chicago and Professor of Pediatrics at Northwestern University Feinberg School of Medicine.

“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.
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.
About this epigenetics and child abuse research news
Author: Julianne Bardele
Source Ann and Robert H. Lurie Children’s Hospital of Chicago
Contact: Julianne Bardele – Ann & Robert H. Lurie Children’s Hospital of Chicago
Picture: Image is in public domain
Original research: Access closed.
“Epigenetic differences in the stress response gene FKBP5 among child victims of abusive or accidental injuries” by Mary Clyde Pierce et al. Pediatric research
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Abstract
Epigenetic differences in the stress response gene FKBP5 in children who have suffered abusive or accidental injuries
Background
Survivors of child abuse experience high rates of adverse physical and mental health effects. Epigenetic alterations of the stress response system, FKBP5 gene in particular have been implicated as a mechanism that may link abuse to lifelong health problems. Previous studies have focused primarily on older people with a long history of abuse; our objective was to test the differential methylation of FKBP5 in children with abusive or accidental injuries at the time of diagnosis.
Methods
We conducted a cross-sectional pilot study of severely injured children under 4 years of age at two children’s hospitals (not = 82). Research staff collected injury histories, buccal swabs (not = 65), and blood samples (not= 25) to measure DNA methylation. A panel of experts categorized the injuries as abusive, accidental or undetermined.
Results
Children with abusive versus accidental injuries had lower methylation of the FKBP5promoter in oral and blood cells, even after controlling for injury severity, socioeconomic status, and psychosocial risk factors.
Conclusion
These results suggest that epigenetic variation FKBP5may occur at the first sign of abuse and may be associated with delayed resolution of the HPA axis stress response. Further testing for epigenetic differences in larger sample sizes is needed to further verify these results.