Functionally Relevant Polymorphisms in the Human Arsenic N-Methyltransferase (AMT) Gene

Reference #:

2002-227

Inventors/Contributors

Richard M. Weinshilboum, M.D., Annette F. Klumpp, Rhaguran Reddy, M.D., Oreste Ezequiel Salavaggione, M.D., Bianca A. Thomae, Eric D. Wieben, Ph.D., Thomas C. Wood

Description

The enzyme utilizes S-adenosylmethionine to methylate aresenite to monomethylarsonate, and can further methylate this product to form dimethylarsinic acid. Known substrates are Aresenite, Methylarsonous acid, Methylarsonous acid. It is known to be expressed in liver, kidney and brain. Arsenic exposure outcomes (death, cancer, neurotoxicity, liver damage, and cardiovascular disease et. al.) may be associated with increased or decreased activity of the enzyme. Three functionally relevant non-synonymous cSNPs were identified that significantly alter enzyme activity.

Patent Status

	U.S. Patent Number 7,250,290 Issued July 31, 2007