Protocol Genetic and Metabolic Markers of BH4 Deficiency in Long COVID - OMF

Sly Saint · Aug 22, 2023

The study expands on a previously-awarded proposal to thoroughly explore the underlying pathophysiology of post exertional malaise (PEM), the hallmark symptom of ME/CFS.

LEAD INVESTIGATORS

Laurel Crosby, PhD

Ronald W. Davis, PhD

STUDY HYPOTHESIS AND DESCRIPTION
Tetrahydrobiopterin (BH4) is a vitamin-like cofactor that is made in the body by a series of enzymatic steps. However, there are common mutations in the biosynthesis pathway that are associated with cofactor deficiency. BH4 is needed for metabolism of a small number of amino acids that are precursors to neurotransmitters, and deficiency leads to cognitive impairment and a wide variety of other symptoms associated with neurotransmitter imbalance. BH4 is also needed for the enzyme nitric oxide synthase, which is a major regulator of blood flow dynamics and immune cell function.

We have determined that individuals with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome are more likely to have pathogenic variants in BH4 synthesis genes compared to the general population, and we have also identified a corroborating metabolic signature that predicts BH4 deficiency. Oxidative stress during infection can also lead to BH4 deficiency, so there are many potential routes to the same problem. We propose to test whether these genetic markers and other indicators of BH4 deficiency are also present in subjects with Long Covid. If we are successful, we will show that ME/CFS and Long Covid have a common underlying disease mechanism that includes deficiency of BH4.
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https://www.omf.ngo/genetic-and-metabolic-markers-of-bh4-deficiency-in-long-covid/

Amw66 · Aug 22, 2023

From memory BH4 synthesis is folate dependent , so SNPs on MTHFR can affect the amount of BH4 ( also impacts methionine and SAMe)

Not so simple.

LarsSG · Aug 23, 2023

Simarron recently found high serum BH4, so I wonder what the story is here. Are they talking about deficiency in some way that includes high serum levels?

Amw66 · Aug 23, 2023

LarsSG said: ↑

Simarron recently found high serum BH4, so I wonder what the story is here. Are they talking about deficiency in some way that includes high serum levels?
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Does this mean it's not doing what it's meant to be doing and thus is in serum when it shouldn't be ( a bit like functional B12 deficiency)?

Could it be protective as something else is out of whack?

When something so interdependent to many processes seems different would it not make sense to gather as much info on these other molecules concurrently?

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Protocol Genetic and Metabolic Markers of BH4 Deficiency in Long COVID - OMF

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Protocol Genetic and Metabolic Markers of BH4 Deficiency in Long COVID - OMF

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Amw66 Senior Member (Voting Rights)

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