Description of Invention:
Human heritability studies using twins and adoptees have indicated that alcoholism is a complex disorder having a genetic component. Studies of Children of Alcoholics (COA) have determined that there is a differential decrease in sensitivity to benzodiazepine drugs (BZD) and ethanol within this specific population.
g-Aminobutryric Acid (GABA) receptors are implicated in various neurological and psychiatric disorders. There are two major types of GABA receptors: A, which is associated with a Cl- Channel; and B, which is associated with K+ and Ca2+ channels. Differential expression of individual subunits of the multimeric protein appears to provide a mechanism for the body to convey different physiological functions. The ? subunit displays benzodiazepine activity and the ?6 subunit has been associated with alcohol related activity. A proline to serine substitution at amino acid position 385 in the ?6 subunit of the GABAA receptor within the COA population has displayed a statistical correlation to the average smooth pursuit eye movement after diazepam administration.
The point mutation can be used as a genetic marker to investigate susceptibility to alcoholism as well as the biochemical and physiological responses to both pre- and post-treatment with benzodiazepines. It is also useful in the investigation of psychiatric disorders such as schizophrenia, affective disorder, or anxiety disorders in which abnormal function of the GABAergic neuronal system is implicated.
Inventors:
Drs. Nakao Iwata David Goldman and Mark Shuckit (NIAAA)
Central Nervous System -Diagnostics-In Vitro Central Nervous System -Research Materials-Receptors and Cell Lines Central Nervous System -Diagnostics Central Nervous System -Research Materials
For Additional Information Please Contact: Pradeep Ghosh PhD MBA
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