5 replies to this topic

[sk8aplexy]

ImmunoChip Study Implicates Antigen Presentation to T Cells in Narcolepsy

www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1003270

 

What I think it is saying perhaps?

Is that they're closing in on a 'blood test' which could be way more accurate than MSLT and/or be similar to, in some manner, the Spinal Tap Cerebral Spinal Fluids -hypocretin/orexin- levels... 

Yet, I may be completely wrong?

 

Thanks, in advance.

[munky]

It's kind of dense for the layperson, but it looks to me more like they're refining genetic tests for those who have Narcolepsy and have the HLA DQB1*06:02 gene ... which is to say, a lot of people with Narcolepsy with Cataplexy, and few of us with Narcolepsy w/o Cataplexy.

 

This statement:

The present results also show limited overlap in susceptibility loci between narcolepsy and loci associated with classical autoimmune disorders, a fact that may be unsurprising based on the lack of readily identifiable autoantibodies, or other clear signs of inflammatory damage in the disease.

seems to me to be saying that they still haven't found any specific antibodies that would enable doctors to use a fairly simple blood test to aid in the diagnosis of Narcolepsy. It looks like they think they may have found autoantigens, but not the corresponding autoantibodies ... and as I understand it, autoantibodies are generally what the blood tests are able to detect.

 

So, my interpretation is that they've refined their understanding of the genetics of Narcolepsy and, in so doing, found more evidence to support the theory that it is an autoimmune disorder, but haven't been able to narrow it down to specific autoantibodies that can be detected with a blood test.

 

Of course, I'm no doctor, scientist or geneticist ... but I may well send my biology professor a link to the article and see if she--or someone she knows--is able to cook it down into layman's terms for us.

[MINItron]

That's what I get out of it as well. They have refined the genetics of narcolepsy, but there is still the problem that just because you have the genes doesn't mean you will ever develop the disease. The actual process that the genes are initiating seems to be very illusive.

 

[sk8aplexy]

I sure wish they'd update the terminology and/or really better yet, broaden it a lot. 

As such from what I imagine, is detrimental in a multitude of ways; both for us, the patients, and the doctors.

 

Hey, thanks for the responses.

[SunCloudSarah]

It says that they used genomic information gathered over the last four years about other autoimmune disorders and looked to see if any of it had any correlation with Narcolepsy to shed some light on why some people with the gene variants previously associated with N develop N and others do not. It was also attempting to find genes in a new section of genome other than where the known N-associative genes are. It found new genes associtated with N and narrowed down where future research needs to happen to determine what the trigger is that creates the autoimmune disorder that creates N. 

 

The findings (with much of the gene name edited out):

 

"We identified two novel narcolepsy susceptibility genes... and confirmed strong associations with HLA and TRA@. The two new loci identified outline with striking clarity that the key pathology underlying narcolepsy likely resides in the interaction between T cells and antigen presenting cells.

Although a role of antigen presentation to...cells is likely the primary susceptibility pathway for the disorder, narcolepsy was not associated with all components of this pathway as represented on the array... The present results also show limited overlap in susceptibility loci between narcolepsy and loci associated with classical autoimmune disorders, a fact that may be unsurprising based on the lack of readily identifiable autoantibodies, or other clear signs of inflammatory damage in the disease. To date, the TCR locus has only been observed in narcolepsy. Notably, we found no associations with loci widely shared among other autoimmune diseases such as interleukin genes and receptors...  Together with findings implicating pandemic H1N1 influenza as a trigger, narcolepsy may offer a unique opportunity, furthering our understanding of how HLA class II presentation of foreign and self-antigens predispose to autoimmunity.

[munky]

Excellent, thank you.

 

I talked to my biology professor on Tuesday--it's a hybrid class, so it's mostly online with an on-campus lab once a week. She said she hadn't had a chance to read the article, but she would this week and would be happy to discuss it with me after class next Tuesday. She's also very interested to hear from someone who has narcolepsy. She said she was fascinated by it, years back, when she had a narcoleptic kitten. She hasn't kept up with the research, though. Understandable, since she's a veterinarian. But she's really interested to see where the research is going and hearing about how it affects the people who have it--as well as how well current medications work. Ought to be an interesting conversation. Love the fact that she's willing to do this for me! It's entirely outside the scope of the basic biology class, and she's taking her own time to do this.

 

Also, when I mentioned that I was so interested because I have narcolepsy, she immediately said, "Oh! So, if I see you starting to doze off while I'm lecturing, I won't be offended, and I won't call you out. Is it okay if I just walk over and touch your shoulder or something?"

 

I was very surprised, though I guess I shouldn't have been, that she was immediately so understanding. I agreed that, yes, that would be an appropriate response, and explained that if I felt a sleep attack coming, she might see me stand up and pace a bit, and that's why I sit at one of the lab tables in the back of the room. "Okay," she said, "so, if you stand up, I'll assume it isn't because you have a question, and I'll just ignore it unless you give me some other indication that you want to ask me something. Okay?"

 

Definitely one of my favorite teachers, since I decided to go back to school. Wish I could take her for all my other classes!