Organic anion transport polypeptide related protein-4 (OATPRP4) gene in tourette syndrome and related disorders

摘要

The present invention identifies that modification, i.e., disruption, of the OATPRP-4 gene and/or its protein product(s) correlates with the predisposition for Tourette syndrome (TS) and/or related disorders. Provided herein, therefore, is a research model for screening compounds and/or small molecules for the ability to reduce, ameliorate or modulate TS and/or related disorders by administering the compound or small molecule to a transgenic animal having a disrupted OATPRP-4 gene and/or protein product(s) of the gene and then measuring or observing if the compound or small molecule reduces, ameliorates or modulates signs and/or symptoms of TS and/or related disorders. Additionally, a research model is provided using an human or animal cell line having a disrupted OATPRP-4 gene and/or protein product(s) of the gene, as well as methods for diagnosing and treating animals or humans having a predisposition for or manifesting symptoms of TS and/or related disorders. Finally, the present invention provides a transgenic animal model, an animal cell line, an animal primary cell culture line of a transgenic animal, a human cell line, and a human primary cell culture line, all of which have a disruption of a OATPRP-4 gene or a disruption of a homologue of the OATPRP-4 gene therein.