Quote:
Originally Posted by Lbrown
I found a gene that is called POT1 - protection of telomeres 1 homolog (S. pombe). It's supposed to be upregulated by a factor of 1.7 when the VDR is activated. Is this at all related to your TERT gene I wonder?
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Hey Deb!
All this gene stuff is way, way above my pay grade. I struggle to understand any of it.
What is particularly confusing is that TERT (and TERC and DK1) refer (near as I can tell) to two different things:
1. A particular protein that is part of an enzyme called telomerase, which is responsible for rebuilding the ends of telomeres after cell division.
2. The gene that "encodes" the TERT protein.
I hope that's right, anyway.
POT1 is a part of this story, another gene that encodes a protein. But instead of being a part of telomerase, the rebuilding enzyme, POT1 is one of six proteins that together make up a substance called "shelterin." Shelterin protects the ends of the telomeres, which in turn protect the end of the chromosomes.
Telomeres are nonsense, but they are nonsense that looks just like real, but defective, DNA. If they weren't protected, the cell's clean-up mechanisms would mistake them for a messed up chromosome, and probably crank up the process that puts the cell out of commission -- either through senescence or apoptosis (sleep or death, as I understand it).
What seems so confusing about all this to me is that there's more than one way that TERT -- or any other gene -- can be messed up. Because a gene is basically a long strand of DNA, like an enormous word made up of various arrangements of four letters, misspellings can happen anyplace along the strand. So there's more than one kind of mutated TERT. At the moment, I don't know which mutation I have -- or even if it for sure makes a difference.
All this gene science is so vast and research on it is moving so fast that I only hope we're all around in 10-15 years to see what it looks like when the scientists figure it all out.
Do let me know if you turn up anything else interesting. One of the things I love about marrowforums is that folks ask such good questions, which forces me to question what I think I know, go read more stuff, and learn more and more.
I hope that your treatment brings you some success. I've read your posts, and, as bad as it is to have MDS, it's got to be so frustrating to have "we really don't know what you have."
Take care!
Greg