FIRST GENE MUTATION FOUND - NR1H3

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FIRST GENE MUTATION FOUND - NR1H3

Postby frodo » Mon Jun 13, 2016 2:22 pm

70% of the people with this mutation (NR1H3) will develop MS, though all they constitute just a small subgroup inside the MS population. The discovery is reported in a couple of news sites like http://www.medicalnewstoday.com/articles/310672.php and http://www.medicalnewstoday.com/releases/310630.php

This affects people with PPMS with the "rapidly progressive multiple sclerosis" subtype. NR1H3 is the name of the gene involved in constructing a specific protein, LXRA,(which also seems to be related to the liver metabolism of cholesterol). The mutation is a change from arginine to glutamine in the area that codifies the protein LXRA

The original article is available here: http://www.cell.com/neuron/abstract/S08 ... %2930126-X

I do not know if there are test commercially available to check this condition. It would be nice if somebody that works in this area could post this information.

Edit:

The British-Columbia University (Vancouver) has set a site in which they supply more information:

http://msgeneticslab.med.ubc.ca/gene-discovery/

And they include a picture of the culprit.

Image
Last edited by frodo on Wed Jun 15, 2016 8:49 am, edited 2 times in total.
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby CureOrBust » Mon Jun 13, 2016 5:13 pm

OK, it was the first hit in google, so it wasnt hard to find. It appears to be a well known gene mutation and is specifically associated with a disease called "cerebrotendinous xanthomatosis" which appears to have no relation to MS specifically; apart from ataxia.
http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1H3
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby frodo » Mon Jun 13, 2016 9:48 pm

CureOrBust wrote:OK, it was the first hit in google, so it wasnt hard to find. It appears to be a well known gene mutation and is specifically associated with a disease called "cerebrotendinous xanthomatosis" which appears to have no relation to MS specifically; apart from ataxia.
http://www.genecards.org/cgi-bin/carddisp.pl?gene=NR1H3


That is not correct. In your own link they state that cerebrotendinous xanthomatosis is linked to the gene CYP27A1. I don't know how you got to this link but it is incorrect.
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby CureOrBust » Tue Jun 14, 2016 2:48 am

frodo wrote:That is not correct. In your own link they state that cerebrotendinous xanthomatosis is linked to the gene CYP27A1. I don't know how you got to this link but it is incorrect.
Huh? near the top of the page specifically on NR1H3 it says:
GeneCards Summary for NR1H3 Gene
NR1H3 (Nuclear Receptor Subfamily 1, Group H, Member 3) is a Protein Coding gene. Diseases associated with NR1H3 include cerebrotendinous xanthomatosis

Now, if your talking about the wikipeadia page, that's simply a general page about cerebrotendinous xanthomatosis, not specifically meant to be about NR1H3.
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby frodo » Tue Jun 14, 2016 9:55 am

CureOrBust wrote:
frodo wrote:That is not correct. In your own link they state that cerebrotendinous xanthomatosis is linked to the gene CYP27A1. I don't know how you got to this link but it is incorrect.
Huh? near the top of the page specifically on NR1H3 it says:
GeneCards Summary for NR1H3 Gene
NR1H3 (Nuclear Receptor Subfamily 1, Group H, Member 3) is a Protein Coding gene. Diseases associated with NR1H3 include cerebrotendinous xanthomatosis

Now, if your talking about the wikipeadia page, that's simply a general page about cerebrotendinous xanthomatosis, not specifically meant to be about NR1H3.


Sorry. I found the genetic link in the wikipedia page and did not check the other one.

Anyway, there can be millions of different mutations of a gene. Even if some mutations of NR1H3 cause CX, this does not exclude its implication in MS.

Appart of that, I have found more information about the discovery in the MS society of Canada. It seems that the MS subgroup affected presents an agressive variant of PPMS

https://mssociety.ca/research-news/arti ... ressive-ms
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby lyndacarol » Tue Jun 14, 2016 4:10 pm

This has nothing to do with NR1H3, but the whole subject of genes and gene mutations is interesting. Old article from 2009 – just being a little impish here (I don't do emoticons):

Genetic link between MS and vitamin D, June 15, 2009
http://www.abc.net.au/science/articles/ ... 596859.htm

"The gene they suspect, on chromosome 12, is CYP27P1 which is also important in vitamin D metabolism."
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby David1949 » Wed Jun 15, 2016 3:31 pm

I didn't know there are subtypes of MS within PPMS. That's good to know. Knock on wood but I think I don't have the especially aggressive variety. At least it hasn't been that way so far.

Anyway it lends credibility to my assertion that MS is not one disease but several similar diseases with different causes.


Also note how this lady doctor was severely criticized by an older doctor for suggesting that MS might have a genetic cause.
https://youtu.be/lLd8Keb7mWo?t=43

That guy represents the worst of medical researchers, trying to silence someone who was later proven right. He didn't know what he was talking about but wanted to silence someone who did. :evil:
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby 1eye » Fri Jun 17, 2016 8:30 pm

http://www.thisisms.com/forum/general-discussion-f1/topic27885.html

This discovery was the one this thread was about. Seems to me it is dangerous to subdivide the people with MS into those who "have" some special subdivision which gets it worse. MS kills one Canadian a day. Are some of those victims less important and don't deserve treatments or research dollars because somebody somewhere has decided their disease is not the same as others'? Subdividing MS sufferers into silos who are allowed to be more or less hopeful is just a meaningless distraction to those actually suffering the disease. Are there 6 or 7 different MS Societies, one for each "phenotype"?

The woman who did all this research is qualified to say whether it applies generally or only to a specific subgroup. The press, pundits, commentators, are not to be believed, as they all have their own biases, agendas, prejudices. Believe the woman who did the research. Don't believe secondary sources when the primary ones are available. Believe Ms. Sadovnick.
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby frodo » Mon Jun 20, 2016 1:57 pm

1eye wrote:http://www.thisisms.com/forum/general-discussion-f1/topic27885.html

This discovery was the one this thread was about. Seems to me it is dangerous to subdivide the people with MS into those who "have" some special subdivision which gets it worse. MS kills one Canadian a day. Are some of those victims less important and don't deserve treatments or research dollars because somebody somewhere has decided their disease is not the same as others'? Subdividing MS sufferers into silos who are allowed to be more or less hopeful is just a meaningless distraction to those actually suffering the disease. Are there 6 or 7 different MS Societies, one for each "phenotype"?

The woman who did all this research is qualified to say whether it applies generally or only to a specific subgroup. The press, pundits, commentators, are not to be believed, as they all have their own biases, agendas, prejudices. Believe the woman who did the research. Don't believe secondary sources when the primary ones are available. Believe Ms. Sadovnick.


MS is not a single disease. It is some kind of bag where doctors put all the demyelinating diseases that they do not understand.

In the past neuromyelitis optica and antiMOG encephalopathy were considered MS. Now these subtypes are studied apart and those patients are much better.

It seems that now familial MS was also put apart. This is a good new for sure for those affected, but also for the rest, because the remaining picture is much clearer.
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Re: FIRST GENE MUTATION FOUND - NR1H3

Postby 1eye » Wed Jun 22, 2016 8:18 pm

I guess we can never agree. Specialization according to the characteristics of "phenotypes" is ok for researchers. They could get richer that way. But among us mortals, only pwMS would say it is not the same disease, specifically, because they want to think there is something they are safe from. It's not mine, it's somebody else's. I'm alright.

I know it killed my friend at 30, and it may kill me. I'm 62.
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