A Serotonin Receptor Gene (5HT1A) Variant Found in a Tourette's Syndrome Patient

• Published in: Biochemical and biophysical research communications 1996-02, Vol.219 (3), p.853-858
• Main Authors: Lam, Susanna, Shen, Yang, Nguyen, Tuan, Messier, Terri L., Brann, Mark, Comings, David, George, Susan R., O'Dowd, Brian F.
• Format: Article
• Language: English
• Subjects: Alcoholism - genetics; Alcoholism - metabolism; Amino Acid Sequence; Animals; Base Sequence; Depressive Disorder - genetics; Depressive Disorder - metabolism; DNA Primers; Genetic Variation; Humans; Models, Structural; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Protein Structure, Secondary; Rats; Receptors, Serotonin - biosynthesis; Receptors, Serotonin - genetics; Receptors, Serotonin - metabolism; Receptors, Serotonin, 5-HT1; Tourette Syndrome - genetics; Tourette Syndrome - metabolism
• ISSN: 0006-291X; 1090-2104
• DOI: 10.1006/bbrc.1996.0322

Serotonergic pathway disturbances have been implicated in neuropsychiatric disorders such as Tourette's syndrome (TS), substance abuse, and depression. In order to search for the presence of an association between these neuropsychiatric disorders and particular serotonin receptors isolated from these patients, we have started to analyze the structure of these receptor genes. We now report that a missense nucleotide change in the 5HT1A receptor gene produces a variant form of the 5HT1A receptor (Arg219to Leu) identified in DNA extracted from a TS patient. Also, in several DNA samples examined, both in controls and in the patients, we found a second missense nucleotide change which resulted in an amino acid change (Asn417to Lys) located in the carboxyl tail of the receptor. Several other polymorphic changes have been reported previously in the human 5HT1A receptor and we have also confirmed these findings in our samples.