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Gene Mutation May Explain Why Some Individuals Are More Vulnerable to Viral Brain Infections

Hip

Senior Member
Messages
17,858
The paper is here: Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Having mutations in your DBR1 gene which make you vulnerable to viral brainstem infection may have significance for ME/CFS. Dr John Chia said that the most likely way that enterovirus gets into the brain of ME/CFS patients is via the vagus nerve.

The vagus nerve runs from gut to brain, and enteroviruses in the gut are able to travel along this nerve by a process called retrograde axonal transport. The virus can get from gut to brain in only 3 days by traveling along the vagus.

The vagus nerve itself terminates at the brainstem: so one might imagine that when the enterovirus travels the vagus nerve and arrives at the brainstem, people who are vulnerable to viral brainstem infection might more readily allow the virus to enter the brain, and create the chronic enterovirus brain infections that brain autopsy studies have shown exist in ME/CFS.
 

Gemini

Senior Member
Messages
1,176
Location
East Coast USA

Gemini

Senior Member
Messages
1,176
Location
East Coast USA
The paper is here: Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Having mutations in your DBR1 gene which make you vulnerable to viral brainstem infection may have significance for ME/CFS.

Took a while to get a copy of the full paper, paywall.

Worth the time & effort though @Hip as you mention its significance to ME/CFS.

In addition to Dr. Chia, @charles shepherd refers to McGarry F et al 1994 which cites evidence of brain stem viral infection in ME/CFS.
http://annals.org/aim/article-abstr...fatigue-syndrome?volume=120&issue=11&page=972

Most intriguing in this new discovery is that a single-gene mutation causing DBR1 deficiency pre-disposes those who have it to brain stem infection, a specific anatomical area of the brain, by common infections like herpes simplex, influenza or norovirus.

The same researchers previously discovered a different single-gene mutation TLR3 which predisposes to lesions in a different anatomical area, the frontal & temporal lobes.

49 collaborators from 35 centers/institutions in 8 countries -- US, France, Japan, Italy, Portugal, Israel, Canada, & Saudi Arabia -- carried out the DBR1 research which is most impressive!

U.S. funding from not only multiple NIH Programs/Grants, but Department of Veteran Affairs & private foundations is also notable.

Brings to mind Drs. Montoya and Younger's current brain imaging research focusing on anatomical areas.

Excerpt from the paper:

A remarkable feature of partial DBR1 deficiency is that it disrupts immunity in a small, specific anatomical territory. The discovery of DBR1 deficiency in children with brainstem viral encephalitis adds weight to the emerging paradigm that single-gene inborn errors of immunity can underlie severe infections in otherwise healthy individuals...