8 replies to this topic

[Kimberly]

I saw a link to this article on another website that I frequent. It was actually submitted with a funny headline that said "Scientists pinpoint genetic driver of narcoleppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppp
pppppp" !!



Scientists pinpoint genetic driver of narcolepsy

Sun Sep 28, 3:06 PM ET

Scientists in Japan have identified a genetic mutation linked to narcolepsy, a disease that can cause someone to doze off in mid-sentence or behind the wheel of a car, a study released Sunday reports.

Other symptoms of the condition, which shows up in late adolescence or early adulthood, include excessive daytime drowsiness, vivid hallucinations on the threshold of sleep, and the sudden, temporary loss of muscle control, often triggered by emotional shock.

A team of researchers led by Katsushi Tokunaga at the University of Tokyo compared the genetic profiles of persons with and without the sleep-inducing disease.

Across four different ethnic groups, patients with narcolepsy were far more likely to carry a specific mutation of DNA located between two genes, one of which has been associated with sleep regulation and the other with the sleep-wake cycle.

The statistical link was strongest among Japanese, but remained significant among Europeans and persons of African descent as well.

The study also showed that the suspect genetic variant -- known as rs57770917 -- is common among Koreans.

The prevalence of the disease varies widely in different countries. In Europe and the United States, narcolepsy is roughly as common as Parkinson's disease or multiple sclerosis, affecting on average one in every 2,500 people.

But in Japan the frequency is four times higher, while in Israel only one in half-a-million people have the condition.

There is no known cure for narcolepsy, which is often treated with stimulants to combat daytime fatigue.

Previous studies had already pointed to genetic factors as playing a role.

An immediate family member with narcolepsy increases one's chances of having the disease by 10 to 40 times.

It was found that all Japanese suffering from the disease carried another genetic variant. But fully ten percent of the Japanese population shared that same mutation, so researchers suspected the existence of additional genetic drivers as well.

The authors of the new study said their findings could point the way to "new therapeutic approaches" designed to target the neurochemical reactions patterned by the wayward genetic material.

The research was published in journal Nature Genetics, part of the British-based Nature Publishing Group.

Copyright © 2008 Agence France Presse. All rights reserved. The information contained in the AFP News report may not be published, broadcast, rewritten or redistributed without the prior written authority of Agence France Presse.

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Hopefully Dr. Mignot will be able to discuss this at the conference.

[too exhausted]

I saw a link to this article on another website that I frequent. It was actually submitted with a funny headline that said "Scientists pinpoint genetic driver of narcoleppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppppp
pppppp" !!



Scientists pinpoint genetic driver of narcolepsy

Sun Sep 28, 3:06 PM ET

Scientists in Japan have identified a genetic mutation linked to narcolepsy, a disease that can cause someone to doze off in mid-sentence or behind the wheel of a car, a study released Sunday reports.

Other symptoms of the condition, which shows up in late adolescence or early adulthood, include excessive daytime drowsiness, vivid hallucinations on the threshold of sleep, and the sudden, temporary loss of muscle control, often triggered by emotional shock.

A team of researchers led by Katsushi Tokunaga at the University of Tokyo compared the genetic profiles of persons with and without the sleep-inducing disease.

Across four different ethnic groups, patients with narcolepsy were far more likely to carry a specific mutation of DNA located between two genes, one of which has been associated with sleep regulation and the other with the sleep-wake cycle.

The statistical link was strongest among Japanese, but remained significant among Europeans and persons of African descent as well.

The study also showed that the suspect genetic variant -- known as rs57770917 -- is common among Koreans.

The prevalence of the disease varies widely in different countries. In Europe and the United States, narcolepsy is roughly as common as Parkinson's disease or multiple sclerosis, affecting on average one in every 2,500 people.

But in Japan the frequency is four times higher, while in Israel only one in half-a-million people have the condition.

There is no known cure for narcolepsy, which is often treated with stimulants to combat daytime fatigue.

Previous studies had already pointed to genetic factors as playing a role.

An immediate family member with narcolepsy increases one's chances of having the disease by 10 to 40 times.

It was found that all Japanese suffering from the disease carried another genetic variant. But fully ten percent of the Japanese population shared that same mutation, so researchers suspected the existence of additional genetic drivers as well.

The authors of the new study said their findings could point the way to "new therapeutic approaches" designed to target the neurochemical reactions patterned by the wayward genetic material.

The research was published in journal Nature Genetics, part of the British-based Nature Publishing Group.

Copyright © 2008 Agence France Presse. All rights reserved. The information contained in the AFP News report may not be published, broadcast, rewritten or redistributed without the prior written authority of Agence France Presse.

--

Hopefully Dr. Mignot will be able to discuss this at the conference.

Hi Kimberly,

Thanks for your post. I had read about the Japanese having a really high rate of narcolepsy and they first thought it to be a case of the trigger factor stress. In Japan when you are twelve years old you take some highly important exams and this previously had been the thought as too why in Japan the narcolepsy rate is so high. The exams being stressful and stress and hormonal changes being a trigger for N.

[Kimberly]

I had read about the Japanese having a really high rate of narcolepsy and they first thought it to be a case of the trigger factor stress. In Japan when you are twelve years old you take some highly important exams and this previously had been the thought as too why in Japan the narcolepsy rate is so high. The exams being stressful and stress and hormonal changes being a trigger for N.

Hi Too Exhausted,

I know for me that it has always been the stressful events in my life that have been the catalyst for my Narcolepsy getting worse. First -- went away to college, first symptoms started. Second -- laid off from job/September 11th/dad died, symptoms worsened. Third -- overworked (70+ hrs/week), had mental/physical breakdown and symptoms became the worst ever. It was after point 3 for me that I was diagnosed.

Wouldn't it be nice if kids could be kids, and we could just be "us" ?? I'm not saying completely stress-free, but a lot less stress would be helpful all around.

Thanks!!

[sleepless sleeper]

Each pregnancy made mine significantly worse. When my mother was diagnosed with brain cancer, I got so stressed out, and the moment I was able to come back home after being gone off and on for 6 months, we had a flood. After that I could not get out of bed for a month. Some of that was just mental exhaustion, but I never fully recovered physically.

[greatbig47]

While that article was okay, I would suggest this one:

ABC News

Of course you may have noticed that this article consults a great organization's leader (*ahem*....yes my wonderful boss is featured!).

And if you're looking for some positive energy to spread, why not send her an email thanking her for her fight to make folks aware of our condition!



-Stu

[Kimberly]

Stu,

The ABC News article is SO much better than the one I found! Wow, very thorough. And Sharon did such a great job, too.

Thank you for posting the link. That is my nomination for the first post in the "Narcolepsy in the Media" forum that was suggested...

[too exhausted]

All through my infant and junior school my school reports said that I daydreamed. I had three teachers in each year and they all wrote this. I couldn't understand how the other children new things that I didn't. I thought that their parents must read them books from the same libary every night. I didn't know that I had fallen asleep and missed the work. I had no energy and would be asleep within minutes of coming home from school. My mum thought that I was well behaved as I asked to go to bed (unlike my younger sister) early every night. I can remember standing on a bee so I didn't have to do sports day.
When I was ten I started my periods and my mum became paralysised over night. This was a trigger for my N and I would at school put my head on the floor and go to sleep. I still 'daydreamed' as my teachers called it but the N had become worse. My IBS started then aswel and my periods were heavy, painful and I would faint every month with them.
Through my college years I would fall asleep in class and have to borrow somebody elses notes. I couldn't understand how every night it was so hard for me to concentrate on my work and why I had to go over and over it for the work to sink in. I couldn't understand how the other students went out most nights and got the same results.
I had my daughter in my twenties and my vivid nightmares from childhood became worse. I was bringing up my daughter on my own and wasn't getting much sleep. She was ill a lot and I didn't get my first full night sleep until she was two years old. Also my hallucinations were become a weekly occurance. I thought that because I had a child and lived in an old house that I was seeing ghosts. I even got a priest in my home to get rid of the spirits. When I had hallucinations as a child my mum told me that I had seen a vision, which is were the spirits idea came from. Because as a child I would have vivid nightmares they often contained somebody dying and as with life there comes death so some of my nightmares did come true.
When I turned thirty my nanna died and my N symptoms took on numbness down my face and the EDS became much worse. Also my thyroid went low and I put weight on, a stone within a couple of months. This is how I got my N & C diagnoise.
The symptoms didn't go away and when my mum died and I was going through a stressful period at work my N got much worse. I was driven to my bed by the exhaustion and aching in my body. The EDS became so bad that I spent nearly two months in bed.
This year I have had to fight the DLA and lost my job to the N and my symptome have taken another turn for the worst. This time my cataplexy has reared it head and with meds I sleep 16 hours a day. My C only used to be when I laughed and I could control it by stopping myself laughing. Now panic, a shock, pain can bring on a attack. Stress has been the key role in my N becoming unbearable.
There is a link between stress and the immune system.

[Mike M]

Stu,

Thanks for posting the ABC News article, and Kimberly I think it is fantastic you got this thread started. I am even more excited to hear Mignot speak, since he was co-author on this gene paper. I realize that identifying a gene doesn't do much, but I also believe that every piece of new information is a step in the correct direction. I also thought that the ABC reporter did a great job of recognizing how difficult narcolepsy truly is. It was one of the first times I saw something acknowledge that even with meds, narcolepsy is difficult. Far too often, one reads, "with medication most narcoleptics can lead normal lives." I am still waiting to meet those PWNs.

I figure a huge reason for the accuracy is that Sharon was involved. Wow, I am so excited! Milwaukee is TOMORROW!

[Kimberly]

Can we move this post to the new "Media" forum??? Thanks!

See you tomorrow! I am half-packed!