Most of “The Transcription Factor BBX Regulates Phosphate Homeostasis” is way beyond my understanding of biochemistry, but I thought we could all use a laugh this week, so it seemed like a good one to share.
It’s a serious article, and the researchers are doing really important work — trying to understand why, exactly, bones sometimes produce too much FGF23. Yes, we know that anyone with one of the many variants in the PHEX gene will produce too much FGF23, but we don’t know the biochemistry of that overproduction. Our bodies are designed to do certain things, and the various organs (including the bones) send and receive signals (proteins, a/k/a biochemical substances) telling them to do those things like, in this case, produce more, more, more FGF23. So it would be really good (for treatment and potentially a cure for XLH and other FGF23-mediated hypophosphatemias) to identify the signals (proteins) the bones are getting (or not getting) that trigger the overproduction of FGF23?
A lot of this article is too advanced for me, but if I’m reading it right, the gist of it is that the researchers approached the overexpression of FGF23 by considering what might trigger it, and they posited that a particular transcription factor (a type of protein; and think of proteins as biochemical messengers) might regulate the production of FGF23. So they created mice that didn’t have this protein, and sure enough, those mice had “increased FGF23 [production] and low phosphate levels in the [blood].” The researchers didn’t take the next step (yet), which would be to say that something about the DNA variants that cause XLH suppress this hormone, but that’s certainly a possibility that I hope will be investigated.
This finding is potentially useful for treating XLH (but remember, it’s still just a hypothetical, so it’s far too early to get too excited about it) IF the researchers take the next step and try increasing this hormone in hypophosphatemic mice, AND it turns out that it does indeed decrease the overproduction of FGF23. Of course then it would have to be confirmed in human research, but if it does hold true, then it opens new possibilities for gene therapy, since gene therapy is generally easier to accomplish when it’s being used to add a substance to the body (this FGF23 suppressing protein) compared to when it’s taking away a substance (FGF23).
It’s way too early to get excited about this research, but even if it doesn’t lead to a cure, it’s still potentially a small step toward better understanding why our bones produce too much FGF23, which is the holy grail of XLH research for anyone who wants a cure instead of just a treatment.
So, given how serious the subject is, what was it that made me laugh? It’s the name of the protein that was being studied. The official name is BBX, but apparently even serious scientists find that too dull and hard to remember, so it’s got a nickname: the bobby sox homolog.
Doesn’t that sound like something made up for a humorous science fiction story, something completely non-serious? Can you imagine sometime in the future, going to the doctor’s office for your annual (or perhaps decennial) “bobby sox injection” to control your excess FGF23 production?
And just think of all the fun we in the patient community could have with logos and slogans. I can just see the reminders to our fellow patients/caregivers: “Show us your bobby sox!” Or “Get bobby sox for strong bones!”
Okay, so writing taglines isn’t my best skill, but I bet there could be some brilliant ones. What’s your bobby sox slogan?
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Please note that the author is a well-read patient, not a doctor, and is not offering medical or legal advice.
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