Genetic alterations affecting the genes encoding the enzymes of the kynurenine pathway and their association with human diseases

Publication date: April–June 2018Source: Mutation Research/Reviews in Mutation Research, Volume 776Author(s): Fanni A. Boros, Zsuzsanna Bohár, László VécseiAbstractTryptophan is metabolized primarily via the kynurenine pathway (KP), which involves several enzymes, including indoleamine 2,3-dioxygenase, tryptophan 2,3 dioxygenase (TDO), kynurenine aminotransferases (KATs), kynurenine monooxygenase (KMO) etc. The majority of metabolites are neuroactive: some of them, such as kynurenic acid, show neuroprotective effects, while others contribute to free radical production, leading to neurodegeneration. Imbalance of the pathway is assumed to contribute to the development of several neurodegenerative diseases, psychiatric disorders, migraine and multiple sclerosis.Our aim was to summarize published data on genetic alterations of enzymes involved in the KP leading to disturbances of the pathway that can be related to different diseases.To achieve this, a PubMed literature search was performed for publications on genetic alterations of the KP enzymes upto April 2017.Several genetic alterations of the KP have been identified and have been proposed to be associated with diseases. Here we must emphasize that despite the large number of recognized genetic alterations, the number of firmly established causal relations with specific diseases is still small. The realization of this by those interested in the field is very important and finding such connections should be a major focus ...
Source: Mutation Research Reviews in Mutation Research - Category: Genetics & Stem Cells Source Type: research