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Dopamine transporter genes

dopamine

By Li Dali, Ph.D.

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The membrane-bound protein called the dopamine transporter (DAT), also known as the sodium-dependent dopamine transporter, is involved in pumping dopamine out of the synaptic cleft and back into cytosol. This vital process clears up most of this neurotransmitter from synapses via reuptake through DATs but studies show that there might be a larger role played by norepinephrine transporters instead in some cases, particularly so with regards to prefrontal cortex functioning. The human gene SLC6A3 which codes for DAT1 generates such integral proteins required inside our bodies. After being pumped out by Dopamine Transporter or its variants it gets sequestered inside cellular vesicles where storage occurs prior release at future moments when requisite levels are attained within neural networks around body sections including brain areas requiring processing balance and appropriate integration thereof!

The production of the dopamine transporter protein, also known as DAT, is facilitated by TheSLC6A3 gene. This crucial component is present within specific neurons in the brain's membrane and operates to transport dopamine molecules into these cells - a neurotransmitter responsible for transmitting signals from one neuron to another. Its pivotal role extends towards supporting various functions such as cognition, motivation, behavior and movement control among others.

Dopamine is discharged into the synaptic cleft, which lies between neurons, in order to convey signals. Following this release, it links up with receptors present on neighboring neuron surfaces. To enable its recycling within the neurons themselves, dopamine is brought back from the synaptic cleft using a transporter that operates as per its activity levels - determining both duration and available quantity of dopamine in this area. It can be inferred that for brain-based dopamine signaling systems, such transporters are indeed critical controllers of essential processes.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Dopamine and see a list of existing studies.

SNP polymorphisms related to the topic Dopamine:

rs12364283The striatal polymorphism of the D2 receptor is a novel genetic marker of multiple addiction phenotypes: alcohol, nicotine, heroin and opioid dependence.
rs3025382The polymorphism is associated with increased nicotine dependence.
rs26907The polymorphism is associated with increased alcohol dependence.
rs324420The genetic variant FAAH is associated with problematic drug use, namely marijuana, opioids, and methamphetamine.
rs1125394The DRD2 polymorphism modulates reward and emotion processing, dopamine neurotransmission, and openness to experience.
rs167771The dopamine receptor-3 (DRD3) gene is associated with specific repetitive behaviours in autism spectrum disorders.
rs4436578The dopamine D2 receptor gene is associated with weight gain in schizophrenic patients with long-term treatment with neuroleptics.
rs1799978The dopamine D2 receptor gene is associated with weight gain in schizophrenic patients with long-term treatment with neuroleptics.
rs4648317Tendency to higher nicotine dependence, increased impulsivity and thrill-seeking.
rs1800497TaqIA polymorphisms of the DRD2 dopamine D2 receptor gene are associated with concomitant alcohol use and depressive disorders.
rs2242446Risk of orthostatic intolerance - dizziness or fainting that occurs with prolonged standing or upright posture.
rs1486009Risk of developing an opioid use disorder (OUD).
rs2007153Polymorphisms associated with Alzheimer's disease, Parkinson's disease and schizophrenia.
rs921451Polymorphism of the dopamine transporter type 1 gene alters response to treatment in Parkinson's disease.
rs6265Increased risk of ADHD or depression. Slightly faster decline in mental abilities in patients with Alzheimer's disease. The presence of this BDNF polymorphism is associated with differences in brain motor system functioning, altered short-term plasticity, and greater error in short-term motor learning.
rs165599Genetic variability in COMT increases the risk of psychotic and affective disorders.
rs1049353Genetic variability in cannabinoid receptor 1 (CNR1) causes addiction to cannabis. Also associated with weight gain when taking neuroleptics.
rs752306Genetic polymorphism of the dopamine D4 receptor increases the risk of attention deficit hyperactivity disorder in children.
rs2283265Functional variants of the dopamine receptor gene are a potential factor in neuropsychiatric disorders.
rs1079597DRD2 polymorphisms confer an increased risk of autism spectrum disorders and schizophrenia.
rs1108580Dopaminergic pathway gene polymorphism and genetic predisposition to Parkinson's disease and schizophrenia.
rs5326D1 dopamine receptor gene is associated with the length of the interval between first heroin use and onset of dependence in heroin addicts. Also influences the increased risk of salt-sensitive hypertension.
rs4633Catechol-O-methyltransferase deficiency is associated with total plasma homocysteine levels and may increase the risk of venous thrombosis.
rs6269Catechol-O-methyltransferase (COMT) breakdown is associated with increased pain sensitivity in humans and in the development of chronic widespread pain, fibromyalgia.
rs4867798Breakage of the dopamine D1 receptor gene increases the risk of paranoid schizophrenia.
rs10761482Association of the ANK3 risk allele with cognitive ability and bipolar disorder.
rs1079598Associated with weight gain caused by antipsychotic drugs (neuroleptics).
rs1611115Associated with lower plasma dopamine beta-hydroxylase activity, increased risk of Parkinson's disease, ADHD.
rs5320Associated with attention deficit hyperactivity disorder in children.
rs6277Associated with a 1.6-fold increased risk of schizophrenia.
rs10994336Ankyrin variant 3 (ANK3) is an independent genetic risk factor for bipolar disorder.
rs4532Affects dopamine D1 receptors associated with autism spectrum disorders.
rs686Affects dopamine D1 receptors associated with autism spectrum disorders.
rs265981Affects dopamine D1 receptors associated with autism spectrum disorders.
rs2295193A variant of the estrogen receptor I (ESR1) gene is associated with anorexia nervosa and eating disorders.
rs1076560A variant of the dopamine D2 receptor gene increases the risk of early Parkinson's disease.
rs3785143A variant of a rare protective allele in the norepinephrine transporter gene causes risk of attention deficit hyperactivity disorder.
rs1006737A polymorphism of the potential-dependent calcium channel gene CACNA1C, is associated with risk of bipolar disorder, schizophrenia and other psychiatric disorders.
rs2159100A polymorphism of the potential-dependent calcium channel gene CACNA1C, is associated with risk of bipolar disorder, schizophrenia and other psychiatric disorders.
rs6280A polymorphism of the dopamine D3 receptor gene is associated with chronic schizophrenia or schizoaffective disorder.
rs1611123A gene variant that increases nicotine dependence and difficulty quitting smoking.
rs6347A functional variant of the dopamine transporter gene associated with the development of schizophrenia
rs270722-fold risk of severe alcohol withdrawal. Associated with more severe symptoms after alcohol withdrawal, such as seizures and white fever. Possible increased chance of ADHD.
rs2302729
rs216013
rs7876027
rs3025422
rs2519154
rs5322
rs1541332
rs1108581
rs77905
rs3025399
rs10993949
rs4703822
rs17410422
rs17030795
rs8044769
rs3773678
rs2440390
rs1076563
rs9824856
rs9288993
rs4460839
rs12363125
rs1800499
rs11214606
rs2734838
rs2734833
rs3776512
rs460000
rs2617605
rs28363168
rs968529
rs3735273
rs7633291
rs324026
rs167770

About The Author
Li Dali Li Dali

Li Dali, a National Foundation for Outstanding Youth Fund recipient, is a researcher at the School of Life Sciences in East China Normal University. He earned his PhD in genetics from Hunan Normal University in 2007 and conducted collaborative research at Texas A&M University during his doctoral studies. Li Dali and his team have optimized and innovated gene editing technology, leading to the establishment of a world-class system for constructing gene editing disease models.

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