Possible Fibromyalgia Gene Sequencing Breakthrough

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Date Joined Jun 2011
Total Posts : 33
   Posted 6/19/2011 6:52 PM (GMT -7)   
June 17, 2011

The whole-genome sequencing of 14-year-old California twins with a mystery illness, and of their parents, brother, and grandparents, produced an important discovery with potentially far-reaching implications. As reported June 15 in Science Translational Medicine and by the National Public Radio Health Blog the twins had a condition termed "DRD" (dopa-responsive dystonia), meaning they had "cerebral palsy-like" spasms thought to result from a deficiency of the neurotransmitter dopamine, which was helped by low doses of the Parkinson’s disease drug L-dopa

The family’s whole-genome sequencing indicated that the twins had received a double dose of a gene variant (mutation) – one from their father's side, and one from their side – that caused them to have low levels not just of dopamine but of the neurotransmitters serotonin and noradrenalin

When their neurologist at Children’s Hospital in San Diego decided that in addition to L-dopa they should try supplementing the twins with 5-HTP (5-Hydroxy L-Tryptophan, a precursor that the body uses in serotonin production) their physical condition improved to a remarkable degree

Where Does Fibromyalgia Come In

It turns out that there is a pattern of known fibromyalgia symptoms in the mother’s family (FM affects predominantly females), which could well be linked to the single copy of the gene variant that they carry. The researchers hypothesize that this gene variant could help explain the positive response of some fibromyalgia patients to SSRI anti-depressants, which work by raising serotonin levels

If that hypothesis pans out,” the NPR blog comments, “it would suggest that rare genetic disorders such as DRD are just the most dramatic manifestation – in people who inherit a double dose of certain gene variants – of much more common disorders such as fibromyalgia among people who have a single copy of the mutation.”

Discovery Was a Lucky Break

The twins’ father works for a biotech company that makes DNA sequencing machines, and was able to convince the pioneering researchers in whole-genome sequencing at Baylor College of Medicine to take on the family genome-sequencing project.

So is it only a matter of time before they or other cutting edge gene hunters will mount further studies of this potential “fibromyalgia variant” to see what it might reveal.

(Please be careful when posting information from other sites to 1) give them credit and 2) make sure there are no hidden links that come along for the ride. wink )

Post Edited By Moderator (Chutz) : 6/19/2011 11:37:12 PM (GMT-6)

Forum Moderator

Date Joined Nov 2008
Total Posts : 5951
   Posted 6/19/2011 7:12 PM (GMT -7)   
Hmmm....interesting, to say the least. Thanks.

...fibromyalgia, hashimoto's thyroiditis, hearing loss, elevated liver enzymes, skin grafting (back), arthritis, scoliosis, lumbar disc damage, sciatica, IBS, migraines, tachycardia, cancer surgeries (face).......daily Nortriptyline, Levothyroxine, & Clonopin, and Tramadol and Midrin as needed

Regular Member

Date Joined Nov 2007
Total Posts : 105
   Posted 6/19/2011 7:50 PM (GMT -7)   
Very interesting. But you know what's sad is that you have be to be super rich or be "in" with the right people to get things done. As the report says the father worke for such and such company and convinced them to run such a genetic test. People like me with no insurance has no chance!!

Anycase I hope they do more research.

Regular Member

Date Joined Jun 2011
Total Posts : 174
   Posted 6/19/2011 8:46 PM (GMT -7)   
That actually makes me wanna cry, in happiness blush , that there's a chance to cure this idea !! That's fantastic news smilewinkgrin smilewinkgrin smilewinkgrin !!! If anyone's from Toronto, ON and listens to 102.1 The Edge, Psychic Nikki made a prediction that a cure for Fibromyalgia will be found this year if not next. Wow... yeah yeah yeah
Fibromyalgia, IBS, allergies, chronic Vitamin D deficiency, and possible Chronic Fatigue Syndrome.

"Who wouldn't be the one you love? Who wouldn't stand inside your love? Protected and the lover of." *The Smashing Pumpkins, Stand Inside Your Love*

ak angel
Veteran Member

Date Joined Apr 2011
Total Posts : 3197
   Posted 6/19/2011 9:58 PM (GMT -7)   
I am so glad we are moving toward an answer. My husband suffered from a rare skin condition. It's gene related also and it's much worse then fm. My child suffers from the skin condition. I worry about my daughter getting fm. She already has Harrington rods in her back. I am waiting for a medical breakthrogh.

Regular Member

Date Joined Mar 2011
Total Posts : 474
   Posted 6/20/2011 6:36 AM (GMT -7)   
this is great but I am confused did they have to take the medicne forever or just for a period of time.
treacheal stenosis,fibromyalgia,panic disorder,ptsd and who knows what else
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