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by loblollyboy 1914 days ago
My dad had MS, they knew that MS was caused by demyelination years ago. Is this study important because they found the gene (or a gene?) that corresponds to that?

MS is not inherited, but it looks like they’ve already identified genes as well that increase risk, and risk increases if a family member has it.

4 comments

> Is this study important because they found the gene (or a gene?) that corresponds to that?

The paper only concludes that the gene is inactive when there's demyelination, the paper doesn't actually say that it causes it.

The previous research I've read says that it is expressed during repair (i.e it is the repair tool, so is in play during repair of the cells).

So even for those of us who have GPR17, making sure it is expressed for repair (if it does repair) would mean a longer active brain life.

I've got half-a binder full of research on PRRT2 from a family incident & then the opposite with conductivity research for SCN1A.

The developmental myelination defects are really weird to read about, because if they are about expression rather than presence of a gene & often a single CNV doesn't mean anything (or everything, argh), the environmental factors overwhelm things ("what kind of fat and how much did you eat during your childhood synaptic pruning period").

Yes, this quote is very misleading:

> Scientists discover the loss of a substance called ‘myelin’ can result in cognitive decline and diseases like Multiple Sclerosis and Alzheimer’s.

MS is pretty much defined as degeneration of the myelin and that has been true for decades.

University press release. The real science is too technical and boring, so the press release states the background of the research as the breakthrough, or makes wild unsupported speculative claims about applications, or both.

https://en.m.wikipedia.org/wiki/Myelin

https://en.m.wikipedia.org/wiki/White_matter

The new research is in identifying a gene.

The word "discover" is a bit of a stretch here, but I suspect they mean that the "discovery" was that the loss of myelin is a part of age-related cognitive decline as well as MS.

But MS is not the only disease is in which demyelination occurs, not by a long shot. Even the definition of MS (when it comes to getting a diagnosis) is a lot more complex than just "degeneration of myelin".

> This new study found that the cells that drive myelin repair become less efficient as we age and identified a key gene that is most affected by ageing, which reduces the cells ability to replace lost myelin.

FYI. Sounds like it's related but maybe not directly.

A whole bunch of genes and environmental risk factors correlated but current knowledge is basically "something causes autoimmune attack of oligodendrocytes (myelin) for some reason"
That's the entire state of bio-medicine; nothing is known for sure and everything is too complicated to understand. And all treatments are based on general statistics. I can't wait for this stage to end.
A bio professor of mine described the field as being like “the ancient Greeks trying to reverse engineer extraterrestrial technology.”

Biology does not work the way humans design things. It’s not one part one function. It’s all parts some functions to varying and often dynamic degrees, a web of interrelationships that is itself in constant flux. It makes us look like cave men disassembling a UFO.

Pharmaceuticals is basically “we throw this molecule in and it seems to do that.” Sometimes we can divine some cause and effect understanding but it’s always surface level and incomplete. How SSRIs supposedly work for depression comes to mind as an example of such an oversimplification.