The COMT gene is expressed in the brain where it plays a fundamental role in the regulation of neurotransmitters such as dopamine and is also found in other tissues such as liver, kidneys and blood where it participates in the control of the levels of certain hormones.
Gene COMT
Catechol-O-methyltransferase (COMT) is a key enzyme that regulates the bioavailability of catecholamines (e.g. adrenaline, noradrenaline and dopamine), which are essential molecules for physiological functions such as mood, cognition, stress management and pain perception.
The Val158Met variant produces a less stable COMT enzyme with reduced activity, thus affecting various neurological and physiological functions.
Genes analyzed
Bibliography
Chen J, Song J, Yuan P, et al. Orientation and cellular distribution of membrane-bound catechol-O-methyltransferase in cortical neurons: implications for drug development. J Biol Chem. 2011 Oct 7;286(40):34752-60.
Morris KA, Grace SA, Woods W, et al. The influence of COMT rs4680 on functional connectivity in healthy adults: A systematic review. Eur J Neurosci. 2020 Oct;52(8):3851-3878.
Munafò MR, Johnstone EC, Guo B, et al. Association of COMT Val108/158Met genotype with smoking cessation. Pharmacogenet Genomics. 2008 Feb;18(2):121-8.
Serrano JM, Banks JB, Fagan TJ, et al. The influence of Val158Met COMT on physiological stress responsivity. Stress. 2019 Mar;22(2):276-279.
Smith SB, Reenilä I, Männistö PT, et al. Epistasis between polymorphisms in COMT, ESR1, and GCH1 influences COMT enzyme activity and pain. Pain. 2014 Nov;155(11):2390-9.
