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PSSM Type 2 Gene has been identified

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Last activity 2016-01-16 9:21 PM
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annemarea
Reg. May 2006
Posted 2016-01-16 7:42 PM
Subject: PSSM Type 2 Gene has been identified



"Drank the Kool Aid"


Posts: 5496
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Location: Iowa, LA
And it is a Dominant gene! Just wanted to update everyone in case it hasn't been posted. Type two will be more common in barrel horses.
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cheryl makofka
Reg. Jan 2011
Posted 2016-01-16 8:24 PM
Subject: RE: PSSM Type 2 Gene has been identified


The Advice Guru


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I'm ignorent on the subject.

Please correct me if I am wrong.

Currently Aqha 5 panel testing included pssm1 not two?

And I was told 6 months ago pssm2 could only be confirmed by muscle biopsy.

Can you post the research.

Has Aqha made any comments?

Thanks
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annemarea
Reg. May 2006
Posted 2016-01-16 9:08 PM
Subject: RE: PSSM Type 2 Gene has been identified



"Drank the Kool Aid"


Posts: 5496
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Location: Iowa, LA
Cheryl,
I recently participated in a study to help identify the Type 2 gene. You can find more info on the PSSM Facebook page or I can try to copy and paste. The test isn't currently available for public use. It was only recently identified.
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annemarea
Reg. May 2006
Posted 2016-01-16 9:16 PM
Subject: RE: PSSM Type 2 Gene has been identified



"Drank the Kool Aid"


Posts: 5496
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Location: Iowa, LA
Copied from a FB post:

Horse Friends!
I know I'm going to sound like a broken record but this is further proof of what I've already been preaching! Sore backs, cinchy behavior, hind end lameness that appears to be hock/stifle soreness, body soreness, not wanting to be groomed/touched etc! PSSM Type 2 is DOMINANT and 2 out of my 3 barrel racing/ racing bred horses had it. Only one tied up once in all those years. This isn't just a "tying-up" disorder. I wasted thousands on saddles, injections, stifle surgeries, chiro treatments, etc and not ONE vet ever mentioned PSSM as a possibility!

Latest statement from Mr Paul Szauter:

I am writing to provide an update to all of you who have enrolled horses in EquiSeq's study of PSSM2 and related disorders. This information is spread out in discussions on this forum and in private messages to individuals, so here it is all in one place.

We have identified the causative variant for PSSM2. This means that we have identified the change in the genetic code of horses that causes PSSM2. The variant is dominant, meaning that a horse with a single copy of the variant (like a PSSM1 horse that is n/P1) is at risk for developing the disease. We do not yet know whether there is a large group of horses that never develop symptoms, as is the case for PSSM1, but we suspect that this will not be the case. We are working to develop a hair bulb test, and expect that test to be commercially available in January.

Every horse that is currently enrolled in our study will be tested for the PSSM2 variant. Every horse will also be tested for the variant that is the basis for RER (Recurrent Exertional Rhabdomyolysis); we expect that this test will be available before the end of the first quarter of 2016. We are also looking at exercise-intolerant horses of other breeds to identify additional variants if they exist.

If you have consent forms and sample packs from EquiSeq but have not yet returned them, please do so as soon as possible.

We are deeply indebted to the many horse owners on this forum who have participated in our study. You have all shared observations with us that are not available in the published scientific literature. Your participation has greatly accelerated our research and will benefit all horse owners in the future. These are your discoveries, we have only done a small amount of work on our own.

Yours,

Paul Szauter, PhD
Chief Scientific Officer, EquiSeq
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Barnmom
Reg. May 2006
Posted 2016-01-16 9:19 PM
Subject: RE: PSSM Type 2 Gene has been identified



Hog Tie My Mojo


Posts: 4847
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Location: Opelousas, LA
Great news!  So eventually we will be able to test for this with a hair sample and not have to do a muscle biopsy?  Thanks for the info. 
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cheryl makofka
Reg. Jan 2011
Posted 2016-01-16 9:21 PM
Subject: RE: PSSM Type 2 Gene has been identified


The Advice Guru


Posts: 6419
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Thanks interested in reading the published research, as from what you posted it sounds like there are limitations to the study, and I question what the scientist say about the limitations, and what further research will be suggested.
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