The Molecular Mechanisms of PFAS Toxicity

Understanding how "forever chemicals" disrupt your endocrine system and brain at the molecular level
⚠️ PFAS are detected in 97% of Americans' blood • They persist for years in your body • They interfere with critical biological pathways

What Are PFAS and Why Do They Matter?

Per- and polyfluoroalkyl substances (PFAS) are synthetic chemicals with unique properties that make them both incredibly useful and dangerously persistent in human biology.

PFAS have been synthesized since the 1950s and are broadly used in the production of firefighting agents, cosmetics, and herbicides. Their numerous industrial applications, combined with an exceptionally long half-life in the human body and extreme environmental persistence, result in common and chronic exposure of the general population.

PFAS chemicals can affect our biology by mimicking fatty acids—the building blocks of fat in our bodies as well as the foods we eat. This molecular mimicry allows them to infiltrate biological systems that normally process fats and lipids, leading to widespread disruption.

Critical Chemical Property

Contrary to other persistent organic pollutants, PFAS are amphiphilic—they contain both strongly hydrophilic (charged end of the perfluorocarbon chain) and strongly oleo- and hydrophobic regions. This unique structure allows them to interact with both water-soluble and fat-soluble systems in your body.

🌍 Where Does PFAS Come From?

PFAS contamination comes from numerous sources in our daily lives. These "forever chemicals" are used in thousands of consumer products and industrial applications, leading to widespread environmental and human exposure.

Agricultural Sources: A Growing Concern

Every year, an average of 2.5 million pounds of pesticides containing the "forever chemicals" known as PFAS are sprayed on California crop fields, according to recent analysis. Between 2018 and 2023, nearly 15 million pounds of PFAS pesticides were applied to California farmland, potentially contaminating produce, soil, and drinking water.

PFAS in Agriculture
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67 per- and polyfluoroalkyl substances (PFAS) are federally approved as active ingredients in pesticides used to kill fungi, insects, and weeds across U.S. farmland.
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PFAS pesticides are being used most heavily on some of California's most iconic and lucrative crops including almonds, pistachios, wine grapes, alfalfa and tomatoes.
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PFAS may be included as inert, non-active ingredients, which pesticide makers are not required to disclose on labels, creating hidden exposure pathways.
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These forever chemicals can accumulate in soil, be absorbed by crops and migrate into nearby water sources, contaminating food and water supplies.
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PFAS-laced fertilizers made from dried sludge from wastewater treatment plants can introduce additional contamination to agricultural land.

Consumer Products and Textiles

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Stain-Resistant Textiles

PFAS are used in textile products to provide properties such as water repellence, oil repellence, stain resistance, durability and thermal stability. Textiles account for approximately 35% of total global PFAS demand.

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Non-Stick Cookware

PFAS are used for their ability to create 'non-stick' surfaces, typically associated with cookware such as frying pans. They're also found in oils, lubricants, bike oils, and ski waxes.

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Food Packaging

PFASs have been in large-scale production since the 1950s and in paper- and plant-fiber-based food contact materials, PFASs are used as sizing agents and chemical barriers against moisture and grease.

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Food Processing Equipment

Certain PFAS are authorized for limited use in cookware, food packaging, and food processing equipment, including materials used to produce gaskets and o-rings that require chemical and physical durability.

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Personal Care Products

PFAS are added to cosmetics and toiletries to provide a smooth, glossy or water-resistant finish, appearing in makeup, sunscreen, dental floss, and other everyday items.

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Firefighting Foams

Firefighting foams represent major sources of environmental PFAS pollution, concentrated around airports, military bases and fire training centres.

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Paints & Coatings

PFAS in paints and coatings improve glossiness, decrease bubbling and peeling, and enhance stain and water resistance of painted surfaces.

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Furniture & Carpets

PFAS are used in furniture to provide a water or stain resistant coating, appearing in upholstered furniture, carpets, and home textiles.

How PFAS Enters Your Body

Contaminated Food & Water PFAS in the environment can enter the food supply through crops and animals grown, raised, or processed in contaminated areas. For most people, food and drinking water are the primary routes of exposure.
Product Migration Very small amounts of PFAS can enter foods through food packaging, processing equipment, and cookware. PFAS may migrate from food processing equipment and packaging.
Water-Rich Foods The risk for uptake of PFAS is likely higher in water-rich fruits and vegetables, because water attracts the chemicals, and research shows PFAS may concentrate at dangerous levels in some produce.
Washing & Disposal PFAS can be released during textile production, use, washing, handling and end-of-life treatment. Wastewater treatment plants cannot effectively remove PFAS, which accumulates in sludge sometimes spread on farmland.
Occupational Exposure Jobs in fluorochemical manufacturing, textiles, food contact materials, electroplating, firefighting, and food service may have elevated PFAS exposure through direct contact with PFAS-containing materials.
Environmental Persistence The widespread use of PFAS and their persistence in the environment means that PFAS from past and current uses have resulted in increasing levels of contamination of the air, water, and soil.

⚠️ The Scope of the Problem

The widespread use of PFAS pesticides is a significant but overlooked source of contamination and exposure, affecting millions in California alone. For most people, food and drinking water are the primary routes of exposure to PFAS, making the use of these chemicals in agriculture especially concerning.

PFAS are a group of at least 16,000 chemicals commonly used to make products resistant to water, stains, and heat. These chemicals are used in pesticides either as active ingredients or as inert ingredients that improve a pesticide's overall functions.

Key Takeaways About PFAS Sources

  • Agricultural pesticides containing 2.5 million pounds of PFAS are applied to California crops annually, contaminating food, water, and soil
  • Textiles account for 35% of global PFAS demand, with chemicals released during production, washing, and disposal
  • PFAS in food packaging, cookware, and processing equipment can migrate into the foods we eat
  • Water-rich fruits and vegetables grown in contaminated areas show higher PFAS uptake
  • Wastewater treatment plants cannot remove PFAS, leading to contaminated sludge being spread on farmland
  • At least 16,000 different PFAS compounds exist, used in thousands of consumer and industrial products

🧬 Endocrine System Disruption: Molecular Mechanisms

In vivo and in vitro studies have reported that PFAS can bind to nuclear receptors, such as estrogen receptors (ERs), androgen receptor (ARs) and thyroid hormone receptor (TRs); therefore, they can alter steroidogenesis.

1. Nuclear Receptor Binding

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Estrogen Receptors (ERα/ERβ)

PFOS interacts with ERα and disrupts estrogen functions in a concentration-dependent manner. PFOA, PFOS, PFNA and PFDA exposure significantly enhanced human ERα-dependent transcriptional activation.

Thyroid Hormone Receptors

PFAS can compete with thyroxine (T4) for binding to the human thyroid hormone transport protein transthyretin (TTR), which may lead to reduced thyroid hormone levels.

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Androgen Receptors (AR)

PFCs may act as endocrine disruptors once in circulation, ultimately leading to genital disorders, such as impaired spermatogenesis and reproductive defects, and antiandrogenic-driven conditions.

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PPAR Receptors

In liver cells, PFAS activate peroxisome-proliferator-activated receptor (PPAR), which induces heterodimerization with retinoid x receptor (RXR). The complex binds to specific DNA sequences (PPREs) in gene promoter regions and modulates transcription.

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Vitamin D Receptor (VDR)

PFOA competes with calcitriol on the same binding site of the vitamin D receptor (VDR), leading to an alteration of the structural flexibility of the receptor.

2. Thyroid Hormone Disruption Pathways

Multiple Mechanisms of Thyroid Disruption
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Impairment of iodine uptake by thyroid cells through competitive mechanisms and/or direct inhibition of the sodium/iodide symporter (NIS)
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Interference with thyroglobulin synthesis
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Modification of Thyroperoxidase (TPO) activity
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Interference with feedback mechanisms or thyroid hormone biological effects through disruption of TH signaling pathway, deiodinase enzyme activity or TH binding proteins
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Long-chain PFAS binding changes the hydrogen bond network within thyroid hormone synthesis regions, inhibiting the required motion for formation of thyroid hormones and stopping production of thyroxine (T4)

Structural Factors That Determine Binding Potency

  • Both the shape and size of the PFAS molecule and the percentage of fluorine atoms have considerable influence on binding strength to thyroid receptors. PFAS compounds with longer chains show moderately high probability of binding.
  • Long-chained PFCA were the strongest binders, possibly due to their enhanced hydrophobicity and the highly hydrophobic ligand binding domain of TRα.
  • The toxic effects of sulfonic PFAS are more prominent than those of carboxylic PFAS.
  • Long-chain PFAS, particularly PFDA, PFOA, and 10:2 FTOH, show strong binding affinities to estrogen and androgen receptors, while short-chain and sulfonated PFAS (PFHxA, PFBS, PFOS) exhibited limited to no activity.

3. Hormone Production and Secretion Interference

Estrogen & Progesterone In vitro studies of PFOS and PFOA effects in porcine ovarian cells (theca and granulosa cells) confirmed inhibition of estradiol and progesterone secretion.
Testosterone PFDeA, PFOS, and PFHxS exposures were significantly associated with increased serum testosterone concentrations in males.
Steroidogenic Enzymes Literature-reported alterations include changes in steroidogenic enzymes and hormone levels across multiple pathways.
Vitamin D Pathway PFOA interference leads to altered response of VD-responsive genes in osteoblasts and epithelial cells. Mineralization in human osteoblasts is reduced upon co-incubation of PFOA with VD.

4. Receptor Modulation Mechanisms

Endocrine disruption may be facilitated at the molecular level either by interaction of PFAS with the estrogen and/or androgen receptor or by interference with sex hormone biosynthesis.

PFAS could modulate the expression of estrogen-responsive genes, which are responsible for the maintenance of gonadotropin releasing hormone neurons in the hypothalamus. They could also interfere with the negative feedback regulation of FSH by E2 at the receptor level.

Clinical Significance

Thyroid hormones are involved in several biological processes, including regulation of energy expenditure, growth, and neurodevelopment, starting from intrauterine life throughout infancy. During fetal life, thyroid hormones are crucial for normal brain development, being essential for orchestrating the processes of neurogenesis, migration, synaptogenesis, and myelination.

🧠 Neurological System Disruption: Brain Mechanisms

1. Blood-Brain Barrier Penetration

PFAS enter the brain through two potential mechanisms: initiating blood-brain barrier (BBB) disassembly through disrupting tight junctions and relying on transporters located at the BBB.

PFAS may cross and injure the blood-brain barrier, potentially fostering increased penetration of other compounds into the brain. PFAS are also able to cross the placenta during pregnancy, allowing for PFAS to accumulate in the fetal brain.

Brain Entry and Accumulation
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PFAS with diverse structures and properties enter and accumulate in the brain with varying efficiencies. Compared to long-chain PFAS, short-chain PFAS may not cross cerebral barriers effectively.
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Two fatty acid binding proteins expressed in the brain, E-FABPs and B-FABPs, have greater expression during embryonic development and only weak expression in adulthood, offering a potentially unique avenue for increased intracellular sequestration of PFAS in the developing brain.
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The brain stem, hippocampus, hypothalamus, pons/medulla and thalamus are dominant for PFAS accumulation.

2. Neurotransmitter System Disruption

Growing evidence shows PFAS exposure causes neurotoxicity through disruption of neurotransmission, particularly the dopamine and glutamate systems, which are implicated in age-related psychiatric illnesses and neurodegenerative diseases.

Dopamine System

Highly reproduced decreased dopamine levels in the whole brain after PFAS exposure, with increased catecholamine levels in the hypothalamus.

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Glutamate System

Highly reproduced increased glutamate levels in the hippocampus after PFAS exposure.

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Monoamine Metabolism

Multiple studies demonstrated PFOS-treated male rats had decreased dopamine or serotonin turnover in the hypothalamus and hippocampus.

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Multiple Neurotransmitters

PFAS disrupt key neurotransmitter systems such as acetylcholine, dopamine, and glutamate, and impair calcium homeostasis and synaptic function.

3. Calcium Homeostasis Disruption

Multiple PFAS are attributed to disrupting calcium homeostasis, impacting tissues throughout the body, including the brain. Changes in calcium homeostasis can cause disruption in neurotransmission, neuron plasticity (through inhibiting long-term potentiation [LTP] and long-term depression [LDP]), protein synthesis/degradation, and mitochondrial function.

Calcium Transporters PFAS targets relating to calcium include the endoplasmic reticulum and mitochondrial calcium transporters IP3R and RyR, and the NMDA and AMPA receptors.
Neuroplasticity Two major potential mechanisms based on current understanding are PFAS effects on calcium homeostasis and neurotransmitter alterations in neurons.
Mitochondrial Function Mechanisms involved in changing neurotransmitters include metabolism, calcium signaling, mitochondrial function, and protein expression.

4. Gene Expression Changes

PFOA exposure altered the expression of almost 600 genes—no other compound altered more than 147. Specifically, PFOA decreased the expression of genes involved in synaptic growth and neural function.

These genes, some involved in processes vital for neuronal health, were found to be consistently affected by PFAS exposure. For example, all compounds caused a gene key for neuronal cell survival to express less, and another gene linked to neuronal cell death to express more.

Critical Neurological Pathways Affected

  • Hypoxia signaling, oxidative stress, protein synthesis and amino acid metabolism—all crucial for neuronal function and development
  • Changes in neurotransmitter levels, altered neurotransmitter receptor and transporter expression and function, and changed neurotransmitter metabolism
  • PFAS-induced behavioral and cognitive disorders in the central nervous system
  • Disruption of BBB integrity, perturbation of neuronal and glial cell function, NF-kB-mediated NLRP3 inflammasome activation

5. Developmental Vulnerability

⚠️ Critical Window of Exposure

Developmental exposure appears to cause more pronounced neurobehavioral effects than adult exposure.

Fatty acid binding proteins have greater expression during embryonic development, offering a potentially unique avenue for increased intracellular sequestration of PFAS in the developing brain.

⚕️ Health Implications and Adverse Outcomes

Endocrine-Related Health Effects

Thyroid Disease Studies found a probable link between PFOA exposure and thyroid disease among other conditions.
Reproductive Health PFAS can disrupt the neuroendocrine system, leading to dysregulation of reproductive and developmental pathways.
Metabolic Disruption PPARα and PPARγ play critical roles in the homeostasis of metabolic factors including carbohydrates, lipids, and proteins.
Bone Health PFOA inhibition of VD-induced gene expression and reduced bone mineralization provide the first biological explanation of epidemiological reports indicating PFAS endocrine disruption on bone health.

Neurological Health Effects

Evidence suggests that PFAS may be neurotoxic and associated with chronic and age-related psychiatric illnesses and neurodegenerative diseases.

Cognitive Function Emerging evidence suggests a potential link between PFAS exposure and neurotoxic effects, spanning cognitive deficits, neurodevelopmental disorders, and neurodegenerative diseases.
Mental Health Individuals living with major depressive disorder demonstrate multiple pathways in common with those affected by PFAS exposure.
Neurodevelopment Epidemiological studies have demonstrated associations between PFAS exposure and adverse neurodevelopmental outcomes.
Behavioral Changes Studies have reported associations between PFAS exposure and behavioral and cognitive disorders in both animals and humans.

Persistence and Bioaccumulation

After years of exposure to these contaminants, they accumulate in human serum and organs with low elimination rates and long elimination half-lives.

PFAS exposure impacts thyroid homeostasis and can cross the placental barrier. PFAS have shown multi-transgenerational effects in laboratory experiences and animal models.

🔬 The Bottom Line

PFAS disrupt human biology through multiple, interconnected molecular mechanisms. Their ability to mimic fatty acids allows them to bind to nuclear hormone receptors throughout the body, interfering with thyroid, reproductive, and metabolic hormones. In the brain, they cross the blood-brain barrier, accumulate in critical regions, and disrupt neurotransmitter systems essential for cognition, mood, and neurological development.

Due to constantly emerging PFAS in the environment, it is crucial to evaluate various perfluorinated compounds in terms of disrupting the human endocrine system. The chemical structure of PFAS—particularly the carbon chain length, the number of fluorine atoms in a structure, and the number of branches—may have an influence on binding to selected human nuclear hormone receptors.

Despite a large body of scientific evidence, the mechanisms of action of per- and polyfluoroalkyl substances (PFAS) are still unclear. However, research continues to uncover the intricate ways these persistent chemicals interact with our most fundamental biological systems.

Future Research Directions

  • There are significant gaps in the literature relative to assessment of the nigrostriatal system (striatum and ventral midbrain) among other regions associated with PFAS-associated neurologic dysfunction observed in humans.
  • While research in this area is still emerging, the potential for PFAS to disrupt neurological health warrants further investigation, given the critical importance of neurological development and function across the human lifespan.
  • The balance of existing studies shows there is some indication of risk in animals, while the human evidence is mixed and warrants further scrutiny.
Sources: National Center for Biotechnology Information (PMC), Environmental Protection Agency, Frontiers in Endocrinology, Scientific Reports, Journal of Clinical Endocrinology & Metabolism, ACS Omega, ScienceDirect, Nature, and peer-reviewed toxicology journals (2019-2025).