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.

Nonsynonimous mutation of catechol-O-methyl-trasnferase (COMT) gene in a patient with temporomandibular disorder / V., D'Antò; Michelotti, Ambrosina; L., Esposito; Zagari, Adriana; R., Liguori; Sacchetti, Lucia. - In: PROGRESS IN ORTHODONTICS. - ISSN 1723-7785. - ELETTRONICO. - 11:25(2010), pp. 174-179.

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

MICHELOTTI, AMBROSINA;ZAGARI, ADRIANA;SACCHETTI, LUCIA
2010

Abstract

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.
2010
Nonsynonimous mutation of catechol-O-methyl-trasnferase (COMT) gene in a patient with temporomandibular disorder / V., D'Antò; Michelotti, Ambrosina; L., Esposito; Zagari, Adriana; R., Liguori; Sacchetti, Lucia. - In: PROGRESS IN ORTHODONTICS. - ISSN 1723-7785. - ELETTRONICO. - 11:25(2010), pp. 174-179.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/371919
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