Potential therapeutic applications of tetrahydrobiopterin: from inherited hyperphenylalaninemia to mitochondrial diseases

Annals of the New York Academy of Sciences
Hyoung K KimJin Han

Abstract

Tetrahydrobiopterin (BH(4)) is an essential enzymatic cofactor in the formation of key neurotransmitters and nitric oxide (NO). It also has a cellular protective role as an antioxidant and scavenger of reactive nitrogen or oxygen species. Inherited hyperphenylalaninemia, which is caused by mutations in converting enzymes responsible for BH(4) synthesis, was the first reported disease implicating BH(4). Oxidative stress can also cause decreased BH(4) levels, leading to uncoupling of BH(4)-nitric oxide synthase (NOS) and diminished NO, further aggravating numerous pathologies. BH(4) deficiency is found in cardiovascular, neurodegenerative, and metabolic diseases and is also involved in aging and mitochondrial dysfunction. BH(4) supplementation successfully prevents the development or progression of these diseases and thus has valuable clinical potential.

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Citations

Jul 17, 2015·Oxidative Medicine and Cellular Longevity·Mika ReinisaloReijo O Karjalainen
Aug 21, 2016·American Journal of Physiology. Lung Cellular and Molecular Physiology·Anna DikalovaCandice D Fike
Feb 23, 2020·American Journal of Physiology. Heart and Circulatory Physiology·Bo LiuZamaneh Kassiri
Apr 30, 2020·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Hyoung Kyu Kim, Jin Han

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