The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.
Behav Brain Res
; 378: 112272, 2020 01 27.
Article
en En
| MEDLINE
| ID: mdl-31586564
ABSTRACT
Catechol-O-methyltransferase (COMT) enzyme has a major role in the adjustment of catechol-dependent functions, for example, cognition, cardiac function, and pain processing. The pathogenesis of autism may be related to dysfunction in the midbrain dopaminergic system. Therefore, we aimed to clarify how COMT gene variants affect dopamine level, and its potential impact on phenotype traits of autistic patients. 52 autistic patients were subjected to comprehensive clinical investigation, sequencing of exon 4 of the COMT gene by direct Sanger Sequencing, and measuring of dopamine levels. The clinical presentations of autistic subjects were correlated with detected COMT variants and dopamine level. Our molecular results revealed that three COMT variants were found rs8192488 [Câ¯>â¯T], rs4680 (Val158Met) and rs4818 [Câ¯>â¯G]. Within autistic subjects, Val158Met rs4680 carriers were significantly distributed (71.2% Pâ¯=â¯0.014) accompanied with abnormal dopamine, abnormal Electroencephalogram (EEG) and increasing the severity of autistic behaviour. As regards the haplotypes, CC/VM/CG block was significantly distributed among the autistic subjects (30.8%) presented with low mean dopamine level (15.8⯱â¯4.7â¯pg/ml, pâ¯=â¯0.05), while CC/MM/CC were presented with high mean level (77.8⯱â¯8.6â¯pg/ml, pâ¯=â¯0.05). Evidence is currently limited and preliminary, further studies are necessary in order to set up a coherent dopaminergic model of Autism Spectrum Disorder (ASD), which would further pave the way for an adequate treatment.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Dopamina
/
Catecol O-Metiltransferasa
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Trastorno del Espectro Autista
Límite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Behav Brain Res
Año:
2020
Tipo del documento:
Article
País de afiliación:
Egipto