{
  "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.",
  "abstract_shown": true,
  "affiliations": [
    "Mitochondrial & Molecular Medicine Pasadena California USA",
    "NeuroNeeds Old Lyme Connecticut USA"
  ],
  "article_type": "case study",
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Phillip M. Zimmermann",
      "orcid": "0009-0001-5466-633X"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Richard G. Boles",
      "orcid": "0009-0005-3332-4137"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/7ens5t1nwp7cb.bib",
  "cited_by": 0,
  "doi": "10.1155/crig/1920171",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13729082/",
  "id": "7ens5t1nwp7cb",
  "issns": [
    "2090-6544",
    "2090-6552"
  ],
  "landing_url": "https://doi.org/10.1155/crig/1920171",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Article"
    ],
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2809|Ion Channels and Receptors"
    ]
  ],
  "openalex": "W7225201969",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1155/crig/1920171",
  "pmcid": "PMC13729082",
  "pmid": "42979319",
  "published": "2026-11-03",
  "publisher": "Wiley",
  "ris": "https://research.draconitic.com/paper/7ens5t1nwp7cb.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:21:55Z",
      "native_id": "PMC13729082",
      "source": "pmc",
      "url": "https://doi.org/10.1155/crig/1920171"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:2809|Ion Channels and Receptors",
      "subfield": "neuroscience"
    }
  ],
  "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",
  "title_text": "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",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:55Z",
  "url": "https://research.draconitic.com/paper/7ens5t1nwp7cb",
  "venue": "Case Reports in Genetics",
  "versions": []
}