Wednesday, January 03, 2024 6:46:26 PM
What causes Rett syndrome?
Almost all cases of Rett syndrome are caused by a mutation (a change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes).
The MECP2 gene contains instructions for producing a particular protein (MeCP2), which is needed for brain development. The gene abnormality prevents nerve cells in the brain from working properly.
There's usually no family history of Rett syndrome, which means it's not passed on from one generation to the next. Almost all cases (over 99%) are spontaneous, with the mutation occurring randomly.
https://www.nhs.uk/conditions/rett-syndrome/#:~:text=Almost%20all%20cases%20of%20Rett,is%20needed%20for%20brain%20development.
What does MECP2 do when healthy?
The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.
In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs. Many of the genes that are known to be regulated by the MeCP2 protein play a role in normal brain function, particularly the maintenance of synapses.
Researchers believe that the MeCP2 protein may also be involved in processing molecules called messenger RNA (mRNA), which serve as genetic blueprints for making proteins. By cutting and rearranging mRNA molecules in different ways, the MeCP2 protein controls the production of different versions of certain proteins. This process is known as alternative splicing. In the brain, the alternative splicing of proteins is critical for normal communication between neurons and may also be necessary for the function of other types of brain cells.
So screwing around with patients mRNA with a vaccine may have messed up the trial, ain'a'hey?
(The last word in the above sentence is a Milwaukee/ Wisconsin colloquialism translated "Isn't it so?" or "Do you agree?"
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