Investigation of 5-HTT expression using quantitative real-time PCR in the human brain in SIDS Italian cases

The sudden infant death syndrome (SIDS) is the main cause of postneonatal infant death, being defined as the sudden death of an infant under one year of age that remains unexplained after a complete clinical review, autopsy and death scene investigation. The neurotransmitter serotonin (5-HT) is involved in the regulation of a broad array of behavioral and biological functions. By controlling the reuptake of 5-HT from the extracellular space, the serotonin transporter (5-HTT) regulates the duration and strength of the interactions between 5-HT and its receptors. It has been shown that the activity of the human 5-HTT gene promoter is regulated by polymorphic repetitive elements, resulting in differences in the efficacy of 5-HTT reuptake among the allelic variants: the short (S) allele is associated with lower transcriptional efficiency of the promoter compared with the long (L) allele. Using qRT-PCR we studied the gene expression of 5-HTT in ten SIDS cases, previously analyzed at a molecular level and which showed the genetic S/S profile. In nine cases we observed 5-HTT expression levels comparable to those seen in the control case, while in one case there was a remarkable reduction in the expression of the gene. It is presumable that, despite the presence of the same S/S genotype, the different genetic background could influence the transcript stability and that the polimorphic variant of the 5-HTT gene could respond differentely to the external environmental stimuli.