DRD5

DRD5

A gene on chromosome 4p16.1 that encodes G protein-coupled dopamine receptor D5, which stimulates adenylyl cyclase. D5 receptor is expressed in neurons in the limbic regions of the brain, and it has a 10-fold greater affinity for dopamine than D1 receptor.

Molecular pathology
Defects in DRD5 cause benign essential blepharospasm.
References in periodicals archive ?
GO network analysis classified 13 genes, i.e., catalytic subunit of the oligosaccharyltransferase complex, keratocan, glutamate metabotropic receptor 8 (GRM8), NADH: ubiquinone oxidoreductase subunit B9, dopamine receptor D5 (DRD5), platelet derived growth factor receptor beta (PDGFRB), MACRO domain containing 1, nuclear receptor corepressor 1 (NCOR1), follicle stimulating hormone receptor (FSHR), N-acylsphingosine amidohydrolase 1 (ASAH1), MTSS1, I-BAR domain containing (MTSS1), glutamyl aminopeptidase (ENPEP), and uroplakin 3A, encompassing 118 nsSNPs, into 5 GO terms (p<0.05) that were associated with kidney development and metabolic processes.
Dentro de los estudios geneticos hechos con ninos con TDAH se postula que los genes mas importantes involucrados en este sindrome son el gen del transportador de serotononina (5HTT), el gen transportador de dopamina (DAT1), el gen del receptor de dopamina D4 (DRD4), el gen del receptor D5 (DRD5), el gen del receptor de serotonina 1B (HTR1B) y el gen SNAP25 (Gizer, Ficks & Waldman, 2009), estos estudios nos dicen que la genetica del TDAH esta muy emparentada con la genetica de los trastornos psiquiatricos.
Futuros estudios centrados en otras variantes geneticas candidatas de estos y otros genes involucrados en neurotransmision y/o funciones similares--como DRD4, DRD5, HTR1B, SNAP-25, LPHN3 y NOS153--, en combinacion con analisis clinicos mas robustos y una muestra poblacional mas grande, podran contribuir a una mejor compresion del TDAH en la poblacion colombiana.
Significant associations have been shown between DAT-1, DRD4, DRD5, 5HTT, HTR1B and SNAP-25 genes and the ADHD.5,7
De acuerdo con las multiples alteraciones que presenta el TDAH se podria mencionar que es heterogeneo, ya que se pone de manifiesto desde las causas que lo originan (geneticas, ambientales) y la implicacion de multiples genes (ADRA2A, SLC6A2, DRD4, DRD5, DAT), en la variedad de expresion de los sintomas (inatencion, hiperactividad, impulsividad) y la comorbilidad con otros trastornos neuropsiquiatricos (trastornos de conducta, trastornos de aprendizaje, ansiedad, depresion) (Lopez et al., 2010, pp.
Furthermore, their team was the first to report a significant association between nicotine dependence and genetic variants in DRD5, MAP3K4 and NPY1R.
DRD1 and DRD5 activate adenylyl cyclase and increase cAMP production.
In addition, a study of 74 individuals in a single family revealed a 75% penetrance of a defect linked to chromosome 4p16.1, which is related to dopaminergic receptors DRD5 and DIB.
Furthermore, the authors did not observe significant association of cue-elicited craving with the nine-repeat allelic variants in dopamine transporter gene (DAT) SLC6A3 and with the dinucleotide repeat polymorphism (DRP) 148bp allele in D5 dopamine receptor gene (DRD5).
Polymorphisms in the dopamine transporter gene (DAT1, SLC6A3) and the dopamine 4 (D4) receptor gene (DRD4) have been most often associated with ADHD; other candidate genes with significant associations in meta-analyses include the dopamine D5 receptor (DRD5), serotonin transporter (5HTT, SLC6A4), serotonin receptor 1B (5HT1B, HTR1B), and synaptosomal-associated protein 25 (SNAP25) (Gizer et al.
Ademas, hay otros genes asociados como: el receptor 5 de dopamina (DRD5), el receptor 2 de dopamina (DRD2), la dopamina B-hidroxilasa (DBH), la tirosina hidroxilasa (TH), la catecol-O-metiltransferasa (COMT) y la monoamino oxidasa A.
Proposed candidate genes include the dopamine D4 receptor gene (DRD4), dopamine D5 receptor gene (DRD5), the dopamine transporter gene (DAT), the dopamine beta-hydroxylase gene (DBH), the serotonin transporter gene (5-HTT), the serotonin receptor 1B gene (HTR1B), and the synaptosomal-associated protein 25 gene (SNAP25).