Related Genes
Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR gene (A1298C variant) and DHFR can interfere with the recycling of BH4 and lead to less severe, but still clinifically significant, deficiencies of BH4.
BH4 is a compound that helps convert several amino acids, including phenylalanine, to other essential molecules in the body. It is also involved in the production of serotonin, dopamine, epinephrine, and norepinephrine – neurotransmitters that transmit signals between nerve cells in the brain. THB deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes control the production of hydroxylase enzymes that are critical for producing and recycling THB. If just one of the enzymes fails to function correctly because of a gene mutation, little or no BH4 is produced. As a result, phenylalanine from the diet builds up in the bloodstream and other tissues, potentially damaging nerve cells in the brain. Tetrahydrobiopterin deficiency also disrupts the levels of certain neurotransmitters in the brain, which affects the function of the central nervous system (CNS), and dysregulation of the nitric oxide cycle leads to a buildup of peroxynitrite, an inflammatory oxidant that further degrades BH4 and perpetuates a state of inflammation.
Read more about this topic: Tetrahydrobiopterin Deficiency
Famous quotes containing the words related and/or genes:
“So universal and widely related is any transcendent moral greatness, and so nearly identical with greatness everywhere and in every age,as a pyramid contracts the nearer you approach its apex,that, when I look over my commonplace-book of poetry, I find that the best of it is oftenest applicable, in part or wholly, to the case of Captain Brown.”
—Henry David Thoreau (18171862)
“Whether you want it or not,
your genes have a political past,
your skin a political tone.
your eyes a political color.
...
you walk with political steps
on political ground.”
—Wislawa Szymborska (b. 1923)