ArticleBritish journal of anaesthesia2019
Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity.
Article in British journal of anaesthesia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 122 citations in OpenAlex.
- An adaptive randomized clinical trial in interstitial cystitis/bladder pain syndrome evaluating efficacy of ASP3652 and the relationship between disease characteristics and Hunner's lesions.World journal of urology · 2021Trial
- Review
- From Genomic Fossils to Functional Elements: The Evolving Story of Pseudogenes.Advanced genetics (Hoboken, N.J.) · 2025Review
- A pathological missense mutation in the deubiquitinase USP5 leads to insensitivity to pain.The Journal of experimental medicine · 2025Article
- Rare biochemical & genetic conditions: clues for broader mechanistic insights.Cellular and molecular life sciences : CMLS · 2025Review
- CRISPR: fundamental principles and implications for anaesthesia.British journal of anaesthesia · 2025Review
- Clinical measures in chronic neuropathic pain are related to the Kennedy and endocannabinoid pathways.European journal of clinical investigation · 2025Article
- The genetics of pain.BJA education · 2024Review
- Characterization of a Fatty Acid Amide Hydrolase (FAAH) in Hirudo Verbana.Neurochemical research · 2024Article
- Anandamide-Mediated Modulation of Nociceptive Transmission at the Spinal Cord Level.Physiological research · 2024Review
- Cutaneous Wound Healing and the Effects of Cannabidiol.International journal of molecular sciences · 2024Review
- Characterization of a Fatty Acid Amide Hydrolase (FAAH) in Hirudo verbana.Research square · 2024Article
- Article
- Molecular basis of FAAH-OUT-associated human pain insensitivity.Brain : a journal of neurology · 2023Article
- Goods and Bads of the Endocannabinoid System as a Therapeutic Target: Lessons Learned after 30 Years.Pharmacological reviews · 2023Review
- Heterosynaptic long-term potentiation of non-nociceptive synapses requires endocannabinoids, NMDARs, CamKII, and PKCζ.Journal of neurophysiology · 2023Article
- Somatic and terminal CB1 receptors are differentially coupled to voltage-gated sodium channels in neocortical neurons.Cell reports · 2023Article
- Neuropharmacological Modulation of N-methyl-D-aspartate, Noradrenaline and Endocannabinoid Receptors in Fear Extinction Learning: Synaptic Transmission and Plasticity.International journal of molecular sciences · 2023Review
- Beyond Pain Relief: A Review on Cannabidiol Potential in Medical Therapies.Pharmaceuticals (Basel, Switzerland) · 2023Review
- QTLbase2: an enhanced catalog of human quantitative trait loci on extensive molecular phenotypes.Nucleic acids research · 2023Article
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Authors and funding
14 authors at 5 institutions in 4 countries.
Funding
Abstract
The study of rare families with inherited pain insensitivity can identify new human-validated analgesic drug targets. Here, a 66-yr-old female presented with nil requirement for postoperative analgesia after a normally painful orthopaedic hand surgery (trapeziectomy). Further investigations revealed a lifelong history of painless injuries, such as frequent cuts and burns, which were observed to heal quickly. We report the causative mutations for this new pain insensitivity disorder: the co-inheritance of (i) a microdeletion in dorsal root ganglia and brain-expressed pseudogene, FAAH-OUT, which we cloned from the fatty-acid amide hydrolase (FAAH) chromosomal region; and (ii) a common functional single-nucleotide polymorphism in FAAH conferring reduced expression and activity. Circulating concentrations of anandamide and related fatty-acid amides (palmitoylethanolamide and oleoylethanolamine) that are all normally degraded by FAAH were significantly elevated in peripheral blood compared with normal control carriers of the hypomorphic single-nucleotide polymorphism. The genetic findings and elevated circulating fatty-acid amides are consistent with a phenotype resulting from enhanced endocannabinoid signalling and a loss of function of FAAH. Our results highlight previously unknown complexity at the FAAH genomic locus involving the expression of FAAH-OUT, a novel pseudogene and long non-coding RNA. These data suggest new routes to develop FAAH-based analgesia by targeting of FAAH-OUT, which could significantly improve the treatment of postoperative pain and potentially chronic pain and anxiety disorders.
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