And...we have a positive PSSM type 2 test. We are n/px

[paddy555]

This is not about the OP's post on here but I have put it here as this is where the experts seem to live
Below is a post from the PSSM forum and it is addressed to Paul Szauter.

Can anyone give me a like to the Minnesota study referred to please? on google there seem to be several but presumably this one is very recent???




hope the presentation went well.
Note that the ‘blog response’ to the Minnesota Study has not been posted on the EquiSeq website yet.
Many of us are getting concerned about the ongoing validity of testing in light of this study.
Also Generatio GmbH - Center for Animal Genetics have down graded their variant reports from “high risk” to “increased susceptibility” (which seems to be appropriate)and removed the RER link with Px adding CACNA2D3 associated myopathy.
Thank you

 

[khalswitz]

This is not about the OP's post on here but I have put it here as this is where the experts seem to live
Below is a post from the PSSM forum and it is addressed to Paul Szauter.

Can anyone give me a like to the Minnesota study referred to please? on google there seem to be several but presumably this one is very recent???




hope the presentation went well.
Note that the ‘blog response’ to the Minnesota Study has not been posted on the EquiSeq website yet.
Many of us are getting concerned about the ongoing validity of testing in light of this study.
Also Generatio GmbH - Center for Animal Genetics have down graded their variant reports from “high risk” to “increased susceptibility” (which seems to be appropriate)and removed the RER link with Px adding CACNA2D3 associated myopathy.
Thank you

Sian Durward-Akhurst and Molly McCue at Minnesota have been doing loads of cool work trying to better describe variation in the equine genome, with an aim of helping better identify benign vs pathogenic variants.

They published this earlier this year and criticised the allelic frequencies of these variants that they found across populations:

Predicted genetic burden and frequency of phenotype-associated variants in the horse - Scientific Reports

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted...

doi.org

Not sure if that’s the paper they mean? Can’t think of a paper aimed just at these variants that has come from Minnesota recently, although something very recent may have skipped my alerts.

 

[Slightlyconfused]

I hope you and baby horse are getting on well Cat.


Also can I just say a just say a huge thank you to the experts, I have learnt to much by reading your responses.

 

[paddy555]

Sian Durward-Akhurst and Molly McCue at Minnesota have been doing loads of cool work trying to better describe variation in the equine genome, with an aim of helping better identify benign vs pathogenic variants.

They published this earlier this year and criticised the allelic frequencies of these variants that they found across populations:

Predicted genetic burden and frequency of phenotype-associated variants in the horse - Scientific Reports

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted...

doi.org

Not sure if that’s the paper they mean? Can’t think of a paper aimed just at these variants that has come from Minnesota recently, although something very recent may have skipped my alerts.

thanks for that.Will have a good read tonight.

seeing this (my quote) on a PSSM group I wonder if more are starting to wonder.

 

[ycbm]

Sian Durward-Akhurst and Molly McCue at Minnesota have been doing loads of cool work trying to better describe variation in the equine genome, with an aim of helping better identify benign vs pathogenic variants.

They published this earlier this year and criticised the allelic frequencies of these variants that they found across populations:

Predicted genetic burden and frequency of phenotype-associated variants in the horse - Scientific Reports

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted...

doi.org

Not sure if that’s the paper they mean? Can’t think of a paper aimed just at these variants that has come from Minnesota recently, although something very recent may have skipped my alerts.

I wish I had half enough brain to understand that paper, but thank you for posting it K. I can't help feeling that it's a shame anyone is having to spend a minute debunking a test that's being sold around the world by a scientist who doesn't deserve the title, which could have been being spent on finding out the real root of the problem.
.

 

[dorsetladette]

Wow - this thread has become so interesting. The PSSM 'thing' became a very heated discussion within the welsh cob world recently. I've always wondered if Ben's massive reactions to life in general is routed here but I've read so many different theories and opinions it's made my head spin.

 

[SEL]

thanks for that.Will have a good read tonight.

seeing this (my quote) on a PSSM group I wonder if more are starting to wonder.

The nutritionist who supports the German PSSM page made a comment recently about how she would have expected research out by now, so I think that people are beginning to wonder. She's found low levels of manganese in many of these "PSSM" horses on blood tests so I also wonder if there is something stopping the uptake - our soils are high enough in manganese in the UK you wouldn't think to supplement. Anyway, her first point of call is getting people to blood test for a range of nutrients so my gut feeling is she suspects a lot of issues shown by the PSSM / MIM horses are nutritional in nature. Obviously that would be her default, but she gets good feedback.

I see Equiseq are out trying to raise finance. I have no idea how much the revenue from the genetic tests has brought in but it doesn't seem to have headed towards the research team.

 

[paddy555]

The nutritionist who supports the German PSSM page made a comment recently about how she would have expected research out by now, so I think that people are beginning to wonder. She's found low levels of manganese in many of these "PSSM" horses on blood tests so I also wonder if there is something stopping the uptake - our soils are high enough in manganese in the UK you wouldn't think to supplement. Anyway, her first point of call is getting people to blood test for a range of nutrients so my gut feeling is she suspects a lot of issues shown by the PSSM / MIM horses are nutritional in nature. Obviously that would be her default, but she gets good feedback.

I see Equiseq are out trying to raise finance. I have no idea how much the revenue from the genetic tests has brought in but it doesn't seem to have headed towards the research team.

thanks, that's interesting.

I wish I had half enough brain to understand that paper,

it's on tonight's bedtime reading list but I see little hope in understanding it.

Wow - this thread has become so interesting. The PSSM 'thing' became a very heated discussion within the welsh cob world recently. I've always wondered if Ben's massive reactions to life in general is routed here but I've read so many different theories and opinions it's made my head spin.

I had a sec D (purebred) I often wondered about PSSM in some way. He was totally crazy. Reactions were out of this world.
He was rugged in a jute rug in his stable at night with a jute roller (long time ago) We had a cat that slept every night on top of him, it sprawled the length of the roller. This happened every night, night after night, month after month. It jumped onto his back. Surely any horse with this degree of repetition must have realised what a cat was?

I took him on an endurance ride, we were riding alone, he met a cat on the ground. A domestic moggy, not a puma, panther, nor a lion identifying that day as a small cat. He refused to move. I had to, very embarrassingly, sit and wait for another rider to follow to get past.

We concluded he simply hadn't got a brain. They had forgotten to put it in. After considering every excuse possible I could only put it down to poor "mental" genetics.

 

[dorsetladette]

thanks, that's interesting.


it's on tonight's bedtime reading list but I see little hope in understanding it.


I had a sec D (purebred) I often wondered about PSSM in some way. He was totally crazy. Reactions were out of this world.
He was rugged in a jute rug in his stable at night with a jute roller (long time ago) We had a cat that slept every night on top of him, it sprawled the length of the roller. This happened every night, night after night, month after month. It jumped onto his back. Surely any horse with this degree of repetition must have realised what a cat was?

I took him on an endurance ride, we were riding alone, he met a cat on the ground. A domestic moggy, not a puma, panther, nor a lion identifying that day as a small cat. He refused to move. I had to, very embarrassingly, sit and wait for another rider to follow to get past.

We concluded he simply hadn't got a brain. They had forgotten to put it in. After considering every excuse possible I could only put it down to poor "mental" genetics.

Sounds a bit like Ben. My friend says his ears are to close together so there isn't room for a brain! I have no idea whether his mum or dad went to uni?!

Ben will react to the rug he's wearing touching his thigh if the wind blows. He also properly freaks out if he gets a fly in his ear. Bathing him is an extreme sport as he freaks when the soap bubbles pop on his leg or the water drips off his tummy.

He seems to have hyper-sensitive skin - anything touching him sets him off. We gave up trying to back him as his reactions are very extreme and once he's 'up' he doesn't come down very easily.

 

[fidleyspromise]

the last time I looked which was a long time ago this test was £250, probably more now. Who on earth would pay that sort of money for an unvalidated test and then worry themselves silly at the results.
The greatest worry in this particular instance is of course the young horse who has the potential to go wrong. I really hope he doesn't.

The trouble is when your at your wits end it seems like a good idea. I've seen where all sorts of tests have been done and no further forward with any diagnosis. At this point what has that person got to lose is what they think.
I've looked at the test several times over the years but not gone for it due to the controversy around it but I've been really close.

My 17yr old horse is uninsured, doesn't travel well, is scared of vets, has major over reaction with needles and its a major stress for me when I consider getting her looked at to try and diagnose her issues.

She's retired, comfortable in the field although I'm not sure if that's changing so will be getting a vet out.

 

[maya2008]

Our Welsh Dx reacts like my child with sensory processing disorder. She is over sensitive to sensory stimuli and her brain struggles to automatically tune out sensations. We accommodate her, like I accommodate her favoured rider (funny that they chose each other!).

Now I could have found something on a test, and decided to retire her or whatever, but actually, she’s a very happy soul who loves her work, is loving being a tame pony and will try her heart out for you.

My vet diagnosed pssm pony also tried her heart out for you if you gave her what she needed (lots and lots of exercise, come rain or shine, ice or snow - I rode her in every weathers and every permutation of my own health) and in her semi retirement days was the most perfect pony for my then tiny 5 year old child.

 

[paddy555]

I have no idea whether his mum or dad went to uni?!

uni ??? mine didn't manage first year in primary school.

 

[I'm Dun]

You should see how they denigrate Valberg on these sites and yet she has published her studies?!

If you ever try and discuss with the scientist man (can't remember his name) all he does is quote loads of scientific looking gumpf at you to try and blind you to the fact it is mostly useless. It's also not like he doesn't know how to publish he has plenty of fly genetics papers....

he is a knob head!

 

[FieldOrnaments]

thanks, that's interesting.


it's on tonight's bedtime reading list but I see little hope in understanding it.


I had a sec D (purebred) I often wondered about PSSM in some way. He was totally crazy. Reactions were out of this world.
He was rugged in a jute rug in his stable at night with a jute roller (long time ago) We had a cat that slept every night on top of him, it sprawled the length of the roller. This happened every night, night after night, month after month. It jumped onto his back. Surely any horse with this degree of repetition must have realised what a cat was?

I took him on an endurance ride, we were riding alone, he met a cat on the ground. A domestic moggy, not a puma, panther, nor a lion identifying that day as a small cat. He refused to move. I had to, very embarrassingly, sit and wait for another rider to follow to get past.

We concluded he simply hadn't got a brain. They had forgotten to put it in. After considering every excuse possible I could only put it down to poor "mental" genetics.

Reminds me of a pony we had at the same time as owning a red VW golf, which we turned up in to feed every day. One day a close neighbour also purchased a small red hatchback... And the pony refused to go past it. Even with a (saner) companion, she'd do a great impression of a crab scuttling across hot coals. Unfortunately she was a mongrel of Dartmoor hill pony ancestry, so can't blame it on pssm. She was just a dumb blonde.

 

[khalswitz]

thanks for that.Will have a good read tonight.

seeing this (my quote) on a PSSM group I wonder if more are starting to wonder.

As in, they’ve been quoting this thread?

 

[FieldOrnaments]

Presuming paddy555 means the article linked

 

[khalswitz]

I wish I had half enough brain to understand that paper, but thank you for posting it K. I can't help feeling that it's a shame anyone is having to spend a minute debunking a test that's being sold around the world by a scientist who doesn't deserve the title, which could have been being spent on finding out the real root of the problem.
.

It’s an unfortunate fact that scientific papers are written for scientists in the field rather than the public - it’s a hangover from when all journals were in print and you had tight word limits, so there was lots of specific jargon used. Its not an intelligence thing it’s a familiarity with the field thing.

I wish more magazines and papers would write articles about scientific papers translating them better.

 

[SEL]

Sian Durward-Akhurst and Molly McCue at Minnesota have been doing loads of cool work trying to better describe variation in the equine genome, with an aim of helping better identify benign vs pathogenic variants.

They published this earlier this year and criticised the allelic frequencies of these variants that they found across populations:

Predicted genetic burden and frequency of phenotype-associated variants in the horse - Scientific Reports

Disease-causing variants have been identified for less than 20% of suspected equine genetic diseases. Whole genome sequencing (WGS) allows rapid identification of rare disease causal variants. However, interpreting the clinical variant consequence is confounded by the number of predicted...

doi.org

Not sure if that’s the paper they mean? Can’t think of a paper aimed just at these variants that has come from Minnesota recently, although something very recent may have skipped my alerts.

I've just worked my way through that (brain aches!). Thank you. It is the paper the PSSM forum were referring to and querying the silence from Equiseq.

My friend's horse came back as K1 on the Equiseq tests. I looked up what that meant in human terms and it was pretty catastrophic - wheelchair, shortened lifespan etc. Friend's horse is back in full work and most of the "symptoms" seem to be EMS / diet / grass related (she's had laminitis). I couldn't believe the K1 finding was anything other than incidental and I'm sure there are many, many more the same.

 

[khalswitz]

I've just worked my way through that (brain aches!). Thank you. It is the paper the PSSM forum were referring to and querying the silence from Equiseq.

My friend's horse came back as K1 on the Equiseq tests. I looked up what that meant in human terms and it was pretty catastrophic - wheelchair, shortened lifespan etc. Friend's horse is back in full work and most of the "symptoms" seem to be EMS / diet / grass related (she's had laminitis). I couldn't believe the K1 finding was anything other than incidental and I'm sure there are many, many more the same.

To be fair, all of the genes for all of the Equiseq variants are ones with very serious disease phenotypes associated with knockout variants in humans. We’re talking severe muscle wastage, weakness and loss of balance, regular rhabdomyolysis, inability to exercise at all, often wheelchairs - really sick people.

PSSM1 isn’t seen in humans, but is caused by essentially permanently switching on the glycogen synthase enzyme. It makes sense that that is a less serious disease presentation (ie most noticeable when older and in work) than complete loss of an enzyme, which most of the human myopathies are.

There is no evidence for what kind of functional effect these variants have, but if they are knocking out the gene product we’d expect pretty severe disease. But there’s no evidence as to what they do at all.

 

[paddy555]

As in, they’ve been quoting this thread?

I don't think so. I doubt any will have read it.

The quote I meant was the last para in italics of my post 181. ie what I took off the PSSM forum. Sorry for any confusion