Study on epigenetics link of PTSD and respiratory disease in 9/11 responders

Sep 24 2012

Benjamin J. Luft, M.D., Edmund D. Pellegrino Professor of Medicine at Stony Brook University School of Medicine, and Medical Director of the Long Island Clinical Center of Excellence (LI-CCE), part of the World Trade Center Health Program, and colleagues, have received a two-year $1 million grant from the WTC Health Program, which is administered by the National Institute for Occupational Safety and Health (NIOSH), to study the role genetics may play after exposure to environmental toxins in the development of post-traumatic stress disorder (PTSD) and respiratory illness in 9/11 WTC responders. Approximately 10 percent of 9/11 responders treated at WTC Health Programs suffer from both conditions.

The "Epigenetics Link of PTSD and Respiratory Disease in 9/11 Responders" study is the first to investigate the association between genetic changes and the development of both conditions in the 9/11 responder patient population. Approximately 500 patients treated at the LI-CCE for both conditions will be evaluated during the two-year study.

Numerous studies have linked PTSD with physical illnesses, illustrating the integral association between mental health and physical disease. For example, in 2011 Dr. Luft and Evelyn Bromet, PhD, Distinguished Professor, Department of Psychiatry and Behavioral Science, Stony Brook University School of Medicine, published their study results finding a relationship between PTSD and respiratory illness in WTC responders in Psychological Medicine. Now Drs. Luft and Bromet, along with co-investigators at Columbia University and Stony Brook, seek to understand how these two comorbid health problems afflicting WTC responders are linked biologically.

"Our analyses of biological mechanisms will lead to hypotheses as to when and how to intervene with responders suffering from both conditions, as well as provide the data necessary to develop a foundation for a new generation of diagnostic tests," says Dr. Luft, Principal Investigator of the study. "An environmental exposure of such magnitude as experienced by the responders may affect the genome of each individual, and over time some of these genomic changes may trigger the turning on or off of certain genes that are implicated in diseases such as cancer, respiratory conditions and PTSD."

Dr. Luft and colleagues will identify biomarkers in individuals by using methods in epigenetics, the study of changes in the human genome from environmental and other outside exposures. The research team will take blood DNA samples from responders to determine methylation patterns, a chemical process contributing to changes in DNA as a result of exposures. By defining the patterns, they hope to uncover biological mechanisms that can help to genetically characterize pathways linking PTSD and respiratory illness in patients.

The study will include genetic tests to determine and compare methylation patterns of DNA in patients with WTC-PTSD, patients who never developed PTSD, and a non-traumatized healthy control group. In addition, the research team will compare the test results of patients with chronic WTC-PTSD and those with PTSD in remission.

Dr. Luft explains that the importance of the research goes beyond finding the genetic changes leading to the development of both PTSD and respiratory illness in responders.

"Not only are a large portion of our men and women responders suffering from both conditions, but this type of mental/physical comorbidity has been shown to lead to increased disability and decreased quality of life. This is a detriment to their long-term health and adds to the multiple medical services these patients already need."

When conducting research on the health of WTC responders, medical researchers are required by a mandate within the Zadroga Act to investigate conditions that amplify the effects of the disaster on responders' health status.

NIOSH has previously supported Dr. Luft's research team investigating the relationship between psychological and physical illnesses in responders, initially with grants during 2011 and 2012 totaling $3 million. The new grant brings total NIOSH support to $4 million.