Scientists Identify 11 Genes That Could Help Understand How PFAS Affects the Brain

It’s no secret that per- and polyfluorinated alkyl substances (PFAS), also known as forever chemicals, are now well-established in the human body, with their presence detected in blood, umbilical cords and human milk. And while experts have linked PFAS exposure to health concerns like elevated cancer risks, endocrine disruption, developmental disruption and reduced immune system response, their impacts on the human brain remain relatively unknown.

However, a team led by researchers from the University at Buffalo has now identified 11 genes that could clear the way to better understanding how these chemicals affect brain tissue, and their level of neurotoxicity.

“Our findings indicate these genes may be markers to detect and monitor PFAS-induced neurotoxicity in the future,” G. Ekin Atilla-Gokcumen, lead co-corresponding author of the study and a chemistry professor at University at Buffalo, said in a statement.

The team exposed six types of PFAS to neuronal-like cells and lipids for a 24-hour period and found that these chemicals caused different expressions in 721 genes. These changes affected oxidative stress, protein synthesis, hypoxia signaling and amino acid metabolism, according to the study. They published their findings in the journal ACS Chemical Neuroscience.

Out of all the PFAS tested, perfluorooctanoic acid (PFOA) led to the widest spread changes in gene expression, affecting nearly 600 genes. By comparison, no other compound in the test affected expression of more than 147 genes. In July 2024, the U.S. Environmental Protection Agency (EPA) designated PFOA as a hazardous substance under the Comprehensive Environmental Response, Compensation, and Liability Act (CERCLA).

In total, 11 genes were impacted to express in the same way after exposure to all six compounds. Some of these differently expressed genes were important for neuronal cell survival, the study found.

“Each of these 11 genes exhibited consistent regulation across all PFAS that we tested. This uniform response suggests that they may serve as promising markers for assessing PFAS exposure, but further research is needed to know how these genes respond to other types of PFAS,” Atilla-Gokcumen explained.

The study results may help scientists further determine how these accumulative chemicals impact human brains, but as of right now, there are no known, safe and effective methods for removing PFAS from the human body. Even determining the level of exposure to PFAS is complicated, with testing costing up to $500, Verywell Health reported. While PFAS blood testing costs are required to be covered by insurance in New Hampshire, coverage varies or may be unavailable in other states.

G. Ekin Atilla-Gokcumen’s lab found 11 genes that are consistently affected by PFAS exposure, either expressing more or less, regardless of the type of PFAS. Meredith Forrest Kulwicki / University at Buffalo

In February 2024, a separate study found that the cholesterol medication cholestyramine was effective at reducing PFAS levels in plasma. However, the study included a small sample of subjects, and the researchers determined that the medication was not suitable for widespread, long-term use for the purpose of lowering PFAS levels because of the risk of side effects, Medical Xpress reported.

For now, medical experts will continue researching how PFAS affect human health alongside ways to reduce the accumulation of these compounds in our bodies, including through alternative materials that could provide the same benefits, such as water- and stain-resistance, with lower risks to human health.

“If we understand why some PFAS are more harmful than others, we can prioritize phasing out the worst offenders while seeking safer substitutes,” Atilla-Gokcumen explained. “For example, alternatives like short-chain PFAS are being explored, as they tend to persist less in the environment and accumulate less in biological systems. However, their reduced persistence may come at the cost of effectiveness in certain applications, and there are concerns about potential unknown health effects that require further investigation. Further research is needed to ensure these substitutes are genuinely safer and effective for specific applications. This research is a major step towards achieving this goal.”

In the meantime, the EPA has recommended reducing exposure by checking PFAS levels in your public water supply or private well, installing filters that reduce PFAS in water and avoiding consumption of fish from PFAS-contaminated waterways.

Further, the Environmental Working Group (EWG) recommended reducing exposure to forever chemicals by limiting consumption of food in takeout packaging or paper board packaging, skipping non-stick cookware in favor of materials like stainless steel and cast iron, and avoiding clothing with aftermarket waterproofing or stain-resistant treatments.