Nonsynonimous mutation of catechol-O-methyl-transferase (COMT) gene in a patient with temporomandibular disorder.
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.
D'Antò
Vincenzo
V
Department of Oral and Maxillofacial Surgery, University of Naples "Federico II", Italy. vincenzo.danto@unina.it
Michelotti
Ambrosina
A
Esposito
Luciana
L
Zagari
Adriana
A
Liguori
Rosario
R
Sacchetti
Lucia
L
D000225:Adenine; D000328:Adult; D001120:Arginine / Q000235:genetics; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005260:Female; D006801:Humans; D004204:Joint Dislocations / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D018377:Neurotransmitter Agents / Q000235:genetics; D010147:Pain Measurement; D016059:Range of Motion, Articular / Q000502:physiology; D012694:Serine / Q000235:genetics; D019224:Temporomandibular Joint Disc / Q000473:pathology; D013705:Temporomandibular Joint Disorders / Q000235:genetics*; D013706:Temporomandibular Joint Dysfunction Syndrome / Q000235:genetics
D003062:Codon; D018377:Neurotransmitter Agents; D012694:Serine; D003596:Cytosine; D001120:Arginine; D002394:Catechol O-Methyltransferase; D000225:Adenine