Nonsynonimous mutation of catechol-O-methyl-transferase (COMT) gene in a patient with temporomandibular disorder

Vincenzo D'Antò, Ambrosina Michelotti, Luciana Esposito, Adriana Zagari, Rosario Liguori, Lucia Sacchetti

Research output: Contribution to journalArticlepeer-review


We report a case of temporomandibular disorder patient with disc displacement without reduction, myofascial pain, limited opening and a novel, never described, nonsynonimous mutation of catechol-O-methyl-transferase (COMT) gene. COMT is one of the enzymes that metabolizes catecholamines, thereby acting as a key modulator of dopaminergic and adrenergic/noradrenergic neurotransmissions, which play a key role in pain modulation. This novel mutation, p.R58S, changed a codon (58 from arginine to serine) in the COMT protein. The introduction of a serine residue in a highly organised secondary structure, in critical regions of the protein, results in a structural alteration. Therefore, we speculate an influence of the mutation on the high pain sensitivity of the patient.

Original languageEnglish
Pages (from-to)174-179
Number of pages6
JournalJournal of Science and Medicine in Sport
Issue number6
Publication statusPublished - Nov 2010


  • COMT gene
  • Disc displacement without reduction
  • Mutation
  • Pain sensitivity
  • Temporomandibular joint disorders

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation


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