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.
Department of Oral and Maxillofacial Surgery, University of Naples "Federico II", Italy. vincenzo.danto@unina.it
Vincenzo
V
D'Antò
Ambrosina
A
Michelotti
Luciana
L
Esposito
Adriana
A
Zagari
Rosario
R
Liguori
Lucia
L
Sacchetti
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