NDLI: Lack of Association Between Down Syndrome and Polymorphisms in Dopamine Receptor D4 and Serotonin Transporter Genes

Content Provider	Springer Nature Link
Author	Das Bhowmik, Aneek Dutta, Samikshan Sinha, Swagata Chattopadhyay, Anindita Mukhopadhyay, Kanchan
Copyright Year	2008
Abstract	Down Syndrome (DS) patients suffer from cognitive dysfunction, depression, hyperactivity, irritability etc. Dopamine (DA) and serotonin (5HT) are known to control cognitive and behavioral attributes. An increased number of the DA receptor 4 (DRD4) is detected in brain regions primarily involved in cognition. Impairments in executive function have also been reported with depletion in 5HT. A variable number of tandem repeat (VNTR) in the exon 3 of DRD4 and an insertion/deletion polymorphism in the promoter region of 5HT transporter (5HTTLPR) have been found to be associated with different neurobehavioral disorders; however, association of these polymorphisms with DS has never been explored. The present family-based analysis on DS revealed significant over-transmission of a DRD4 VNTR allele which encodes for D4 receptor with average activity. No association was noticed for the 5HTTLPR. We may conclude that these genetic polymorphisms are not contributing to the neuromotor and cognitive dysfunctions observed in DS.
Starting Page	1286
Ending Page	1291
Page Count	6
File Format	PDF
ISSN	03643190
Journal	Neurochemical Research
Volume Number	33
Issue Number	7
e-ISSN	15736903
Language	English
Publisher	Springer US
Publisher Date	2008-02-13
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Down syndrome DRD4 exon 3 VNTR 5HTTLPR Cognitive deficiency Neuromotor dysfunction Neurology Biochemistry Neurosciences
Content Type	Text
Resource Type	Article
Subject	Medicine Biochemistry Cellular and Molecular Neuroscience

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