The serotonin transporter is a monoamine transporterprotein. It allows neurons, platelets, and other cells to accumulate the chemical neurotransmitterserotonin, which affects emotions and drives. Neurons communicate by using chemical messages like serotonin between cells. The transporter protein, by recycling serotonin, regulates its concentration in a gap, or synapse, and thus its effects on a receiving neuron’s receptor.
In humans, the serotonin transporter is encoded by the human serotonin transporter gene (hSERT)
Researchers have found an uncommon mutation in hSERT, in some unrelated families with OCD, that leads to faulty transporter function and regulation. A second variant in the same gene of some patients with this mutation suggests a genetic "double hit," resulting in greater biochemical effects and more severe symptoms.
The combination of these changes, both of which increase serotonintransport by themselves, may explain the unusual severity and treatment resistence of the illnesses in the subjects and their siblings.
The transporterprotein, by recycling serotonin, regulates its concentration in a gap, or synapse, and thus its effects on a receiving neuron’sreceptor.
By examining the serotonintransportergene’s mutation and flawed regulation in individuals with OCD, the new research provides insights on transporter function and on the consequences of the variant, which may lead to tests to identify and treat mental illness.
A gene containing the 44bp insertion in the transcriptional control region is considered to be the “long” form of the allele and a gene with the 44bp section deleted from the transcriptional control region is considered to be the “short” form of the allele.
In contrast, Dr. Redford Williams’ research indicates that those with the long allele of the serotonintransportergene exhibited higher blood pressures and had greater heart rate responses to a mental stress protocol when compared to subjects that were homozygous for the short allele of the gene.
Furthermore, biologists are currently making an effort to depart from the one gene, one protein, one phenotype model to clarify the notion that phenotypes are produced by a variety of factors (both genetic and environmental) and that the expression of many traits is determined by the interaction of several genes.
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