A SEROTONIN RECEPTOR GENE (5HT1A) VARIANT FOUND IN A TOURETTES-SYNDROME PATIENT

Serotonergic pathway disturbances have been implicated in neuropsychia tric disorders such as Tourette's syndrome (TS), substance abuse, and depression. In order to search for the presence of an association betw een these neuropsychiatric disorders and particular serotonin receptor s isolated from these patients, we have started to analyze the structu re of these receptor genes. We now report that a missense nucleotide c hange in the 5HT1A receptor gene produces a variant form of the 5HT1A receptor (Arg(219) to Leu) identified in DNA extracted from a TS patie nt. 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 (Asn(417) to Lys) located in the carboxyl tai l of the receptor. Several other polymorphic changes have been reporte d previously in the human 5HT1A receptor and we have also confirmed th ese findings in our samples. (C) 1996 Academic Press, Inc.