Description of Invention:
Gamma-aminobutyric acid (GABA) is a key inhibitory neurotransmitter in the mammalian central nervous system. Evidence indicates that GABA receptors are associated with various neuropsychiatric disorders. Currently, there are no reliable and sensitive markers on the market for the molecular diagnosis of alcoholism or anxiety disorders, although both groups of disorders are thought to involve GABA function. Alcohol modulates GABA function and shows cross-tolerance with benzodiazepines. Anxiety disorders are treated with benzodiazepines. Also, there are no molecular predictors of interindividual variation in response to the commonly used benzodiazepine drugs (such as valium) which act through GABAA receptors. The a-6 subunit of GABAA receptors is sensitive to alcohol and in a rat genetic model a genetic variant of the a-6 subunit had been directly related to sensitivity to alcohol and benzodiazepine drugs. This invention pertains to a particular polymorphism in the human a-6 subunit gene. This relatively common human sequence variant predicts sensitivity to both benzodiazepine drugs and ethanol. In children of alcoholics this substitution also correlates with susceptibility to alcoholism. Thus, this invention presents commercial opportunities both as a diagnostic screening tool in alcoholism, anxiety disorders and other neuropsychiatric diseases, and as a predictive tool for therapeutic and pathological responses to commonly administered benzodiazepine drugs.
Inventors:
David Goldman (NIAAA) Nakao Iwata (NIAAA) Mark Shuckit
Portfolios: Devices/Instrumentation Central Nervous System
Devices/Instrumentation-Research Materials-Devices-Separation Central Nervous System -Diagnostics Devices/Instrumentation-Diagnostics Devices/Instrumentation-Research Materials
For Additional Information Please Contact: a-6 Subunit (Web. Ref. 520)&cc=nihott@mail.nih.gov">Charlene A. Sydnor Ph.D.
NIH Office of Technology Transfer
6011 Executive Blvd, Suite 325
Rockville, MD 20852-3804
Phone: 301/435-4689
Email: a-6 Subunit (Web. Ref. 520)&cc=nihott@mail.nih.gov">sydnorc@mail.nih.gov
Fax: 301/402-0220
