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Peer-reviewedCC BY 4.0Case Reports in Genetics

A Woman With Multiple Neuropathic Symptoms, Hypersensitivity to Heat, Peppers, and Alcohol, With a Variant in the TRPV1 Capsaicin Receptor Gene: Possible Implications to ME/CFS

  • Phillip M. Zimmermann1
  • Richard G. Boles1,2
  1. 1Mitochondrial & Molecular Medicine Pasadena California USA
  2. 2NeuroNeeds Old Lyme Connecticut USA
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Abstract

Transient receptor potential vanilloid 1 (TRPV1) is a ligand and heat‐gated ion channel expressed on nociceptors that plays a central role in thermal and chemical pain signaling. Loss‐of‐function variants in TRPV1 have been associated with reduced nociception. We report a 65‐year‐old woman with disabling polyneurofunctional/neuropathic symptomatology including migraine, functional gastrointestinal disorders, and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Diagnostic evaluation revealed sensory polyneuropathy and autonomic instability. Whole genome sequencing reanalysis identified a heterozygous TRPV1 c.2174A > T (p.Lys725Met) Likely Pathogenic variant that is very rare and highly conserved. Our patient reports consistent, longstanding, marked hypersensitivity to heat, capsaicin, and alcohol, all of which are known TRPV1 agonists, supporting a gain‐of‐function mechanism for this variant. Furthermore, prior studies have implicated TRPV1 hyperactivity in migraine, nociceptive sensitization, and ME/CFS. Despite the excellent clinical correlation, causality of the variant cannot be definitively established without functional studies. This case expands the potential phenotypic spectrum associated with TRPV1, and highlights a possible role for TRPV1‐mediated channelopathies in complex neurofunctional disorders including ME/CFS.

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Cite

BibTeXRIS
BibTeX
@article{zimmermann2026woman,
  title = {{A Woman With Multiple Neuropathic Symptoms, Hypersensitivity to Heat, Peppers, and Alcohol, With a Variant in the TRPV1 Capsaicin Receptor Gene: Possible Implications to ME/CFS}},
  author = {Phillip M. Zimmermann and Richard G. Boles},
  journal = {Case Reports in Genetics},
  year = {2026},
  month = nov,
  doi = {10.1155/crig/1920171},
  url = {https://doi.org/10.1155/crig/1920171},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - A Woman With Multiple Neuropathic Symptoms, Hypersensitivity to Heat, Peppers, and Alcohol, With a Variant in the TRPV1 Capsaicin Receptor Gene: Possible Implications to ME/CFS
AU  - Phillip M. Zimmermann
AU  - Richard G. Boles
PY  - 2026
DA  - 2026/11/03
JO  - Case Reports in Genetics
DO  - 10.1155/crig/1920171
UR  - https://doi.org/10.1155/crig/1920171
AB  - Transient receptor potential vanilloid 1 (TRPV1) is a ligand and heat‐gated ion channel expressed on nociceptors that plays a central role in thermal and chemical pain signaling. Loss‐of‐function variants in TRPV1 have been associated with reduced nociception. We report a 65‐year‐old woman with disabling polyneurofunctional/neuropathic symptomatology including migraine, functional gastrointestinal disorders, and myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Diagnostic evaluation revealed sensory polyneuropathy and autonomic instability. Whole genome sequencing reanalysis identified a heterozygous TRPV1 c.2174A > T (p.Lys725Met) Likely Pathogenic variant that is very rare and highly conserved. Our patient reports consistent, longstanding, marked hypersensitivity to heat, capsaicin, and alcohol, all of which are known TRPV1 agonists, supporting a gain‐of‐function mechanism for this variant. Furthermore, prior studies have implicated TRPV1 hyperactivity in migraine, nociceptive sensitization, and ME/CFS. Despite the excellent clinical correlation, causality of the variant cannot be definitively established without functional studies. This case expands the potential phenotypic spectrum associated with TRPV1, and highlights a possible role for TRPV1‐mediated channelopathies in complex neurofunctional disorders including ME/CFS.
SN  - 2090-6544
SN  - 2090-6552
ER  -