Genetic Mutation Underlying Orthostatic Intolerence and Diagnostic, Therapeutic and Screening Methods Related Thereto

The mutation allows for the first genetic test to be conducted for one form of chronic fatigue or mitral valve prolapse which we describe as orthostatic intolerance or postural tachycardia syndrome (POTS). The technology allows for the development of this test and the development of other tests in the same gene at other loci that may contribute to similar illnesses. The awareness of a phenotype associated with the mutation in the antidepressant-sensitive NET allows for evaluation of the role of the NET gene in mental illness and thus the development of genetic tests for increased susceptibility to mental and autonomic illnesses. This is the first neurotransmitter transporter gene defect that has been shown to be linked to a disorder. The precedent act opens the door for screening for other genetic mutations in genetically related transporters such as the serotonin transporter or dopamine transporter. These latter transporters have been implicated in depression anxiety, pscyhostimulant abuse (cocaine/amphetamine) and attention-deficit disorder. Our work allows for genetic inspection of transporter genes associated with these disorders. Our work may also allow for an examination of whether circulating antibodies against the NE transporter are contributory to OI or other chronic fatigue disorders.

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U.S. Patent 7,094,532: Genetic mutation underlying orthostatic intolerance and diagnostic and therapeutic methods relating thereto

Inventors: 
David RobertsonRandy Blakely
Licensing manager: 
Karen Rufus

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