Tetrahydrobiopterin
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Tetrahydrobiopterin (BH4) is cofactor in the synthesis of the neurotransmitters dopamine, norepinephrine, epinephrine and melatonin. It is also a cofactor in the synthesis of nitric oxide.
MTHFR mutations[edit | edit source]
MTHFR A1298C is involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF), a reaction that produces one molecule of BH4. Mutations in this gene down regulate the methylation cycle and consequently, the production of BH4.[citation needed]
Function[edit | edit source]
ME/CFS[edit | edit source]
BH4 was found to be raised in a pilot study of ME/CFS patients with orthostatic intolerance by Gottschalk and colleagues in 2023.[1]
Notable studies[edit | edit source]
- 2024, Dysregulation of tetrahydrobiopterin metabolism in myalgic encephalomyelitis/chronic fatigue syndrome by pentose phosphate pathway[2] - (Full text)
- 2023, Detection of Elevated Level of Tetrahydrobiopterin in Serum Samples of ME/CFS Patients with Orthostatic Intolerance: A Pilot Study[1] - (Full text)
Learn more[edit | edit source]
References[edit | edit source]
- ↑ 1.0 1.1 Gottschalk, Carl Gunnar; Whelan, Ryan; Peterson, Daniel; Roy, Avik (May 13, 2023). "Detection of Elevated Level of Tetrahydrobiopterin in Serum Samples of ME/CFS Patients with Orthostatic Intolerance: A Pilot Study". International Journal of Molecular Sciences. 24 (10): 8713. doi:10.3390/ijms24108713. PMC 10218672. PMID 37240059.
- ↑ https://journals.sagepub.com/doi/full/10.1177/11795735241271675