Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Catechol-O-Methyltransferase (COMT) [T88.7]

OMIM number: 116790 (COMT)

Dipl.-Biol. Birgit Busse

Scientific Background

The phase II enzyme COMT catalyzes the transfer of methyl groups to endogene and exogene catecholes and is thus contributing to their inactivation. The enzyme plays a major part in degradation of catecholaminergic neurotransmitters like dopamine and norepinephrine (NE), through which the available amount of these substances are regulated in the body. Hence, the enzyme is believed to contribute to the development of several mental disorders (depression, schizophrenia, ADHD etc.).

The COMT-108/158 Val allele is associated with a high, the 108/158 Met allele with a low enzyme activity. Various studies indicate that the COMT-V108/158M polymorphism has an influence on the effectiveness of certain medication (e.g. mirtazapine, methylphanidate). COMT plays an important role in the degradation of emergency medication containing catecholamines (e.g. epinephrine) or therapeutics for Parkinson's disease.