Functionally Relevant Polymorphisms in the Human Phenylethanolamine N-Methyltransferase (PNMT) Gene

Reference #:

2002-152

Inventors/Contributors

Richard M. Weinshilboum, M.D., Bianca A. Thomae, Eric D. Wieben, Ph.D., Juan Ji

Description

PNMT is the terminal enzyme in catecholamine biosynthesis and catalyses the synthesis of epinephrine from norepinephrine. Norepinephrine and Phenylethanolamine are substrates. The activation is methylation. It is expressed in Chromaffin cells of the Adrenal Medulla, medulla oblongata, hypothalamus, and sensory nuclei of the vagus nerve. Diseases and conditions that may be associated with increase or decrease activity of the gene product are Multiple Sclerosis, Parkinson?s Disease, psoriasis, Alzheimer?s disease, ADHD and Tourette Syndrome, and hypertension. Three non-synonymous cSNPs have been identified with one demonstrating very low activity and rapid degradation in 1% of the African American population.

Patent Status

	U.S. Patent Number 7,371,523 Issued May 13, 2008