I must not understand science, because it seems patently logical to me that horses with different genes in particular places would have different mixtures of proteins produced when called for–which would seem to me to correlate to me to different metabolisms.
There is a huge difference between a horse jumping up to 1.60 meters in 90 seconds or less and a race horse at maximum exercise capacity for longer–sometimes much, much longer. Also, the jumper most likely doesn’t have the constant pounding on the lungs for the whole period of its exercise that a galloping horse does, and this supposition is about bleeding.
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@jadebe, if you are in contact with Dr. Winand, would you ask her if it is at least plausible that carrier status could produce increased tendon and ligament elasticity during exercise? And if so, how likely would that be?
I did read the article. Being a researcher, several areas of interest do come up. Has anyone done a retrospective study of the bloodlines of these horses; is there a common thread? It intrigues me to wonder what traits would be expressed in a heterozygous animal. Granted not all genes, alleles work independently but it would be a great research project to evaluate these animals. Very much food for thought
I assumed all collagen to be affected. So also in ligaments, muscles, bones and tendons. Horse and rider landing from a substantial height seems to me very hard on the forehand.
Viney/Elles --Might the difference be in the speed, which transmits to force (3x horse weight?) for every stride a racehorse takes in a race, whereas a jumper (much slower between fences) would have limited stressful efforts-the 1.60 m jump at reduced speed x 16 efforts?
I have been saying/alluding to this from the start of these discussions here. Many people have claimed the carrier horses emphatically don’t have problems. I’ve never said they DO, but I’ve said we don’t know, and they might, since we know this is a similar issue to EDS in people, similar to connective tissue disorders known to exist in TBs, and similar to HERDA in QHs where we know for a fact that tendons are different in carriers. Whether that difference translates to the benefit that some theorize is there, is still not studied, let alone dis/proven.
It may be that FFS does affect ligaments and/or tendons, like those other diseases. It may be the effect is negligible. It may - MAY - be a factor in injuries. But until there are enough carriers studied, over enough years (or of horses who are old enough), and at a high enough level of performance, we can’t know one way or another. How do we know that carriers whose pedigree said they should easily be a 1.6m horse, but who get injured at 1m, aren’t injured because of FFS? We don’t - and likely never will. It would be an incredibly difficult, and maybe even impossible, study to do, and IMHO, unlikely to be done at all.
So yes, plausible theory, though one which will likely never be studied well enough to prove or disprove. And that is the reason some SOs have pulled stallions from rosters - they don’t know.
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I don’t know but the patent and any subsequent transfer thereof would be matters of public record so it should be possible to find the info online.
Do you mind my asking where you got information about the metabolic differences between carriers and non carriers? This isn’t something I had heard previously. Is this more information that, like which is alluded to in the HSI articles, Dr Winand says she has been researching but isn’t publicly sharing findings on yet?
It’s textbook molecular biology. The WFFS mutation is a single nucleotide polymorphism in the PLOD1 gene which is involved in production of an enzyme required to build collagen. When the mutation is present, the enzyme produced doesn’t function normally.
By simple math, horses with one copy of the mutation, should produce about 50% of the amount of fully functional enzyme that non-carriers produce. However, there’s evidence in the literature of other recessive traits which hints that occasionally a normal copy gene will ramp up production to compensate somewhat when a mutant copy present & fouling up the production line.
Dr. Winand obviously suspects, and maybe with good reason, that WFFS carriers aren’t producing enough fully functional enzyme to withstand the demands of strenuous performance but credible evidence of that in the form of enzyme levels, performance stats & tissue sample analyses has yet to be provided. Until it is, I’m not going to draw any conclusions but am most grateful to her for raising awareness of the fact that the mutation exists in the gene pools of multiple breeds.
I find the HSI articles troubling for the way they present their theory as fact. It’s not responsible reporting and in the comments, there are people who clearly are taking this slant and running with it without having any evidence. it is an unfortunate situation.
On April 3, HRI ran w/ headline ‘Mutant Gene Causes Horse Bleeding and Breakdown’ meaning PLOD1 gene w/ WFFS mutation. That was irresponsible. ‘May contribute to’ would have been reasonable.
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Wouldn’t that cause soft tissue or suspensory ligament or tendon failure though? I don’t see how that could cause a bone to break. And yes, I understand that a failure of the soft tissue can cause bones to fail but to be linked they would all have to have both a soft tissue failure and a skeletal failure. No?
Collagen is found throughout the body including in bone matrix.
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Some of the posts above contradict my understanding of autosomes and recessive traits.
In a recessive condition, one gene might be malfunctioning but the other copy is normal and the body proceeds with normal function because only one functioning copy of the gene is necessary.
While there are partial dominance and codominance in mutations, and some things are impacted by more than one gene (gene combinations) I’m unclear on the idea that someone with a mutation like this would only have 50% of the total capacity of a “normal” horse.
One copy of a gene in a recessive condition (like EDS VI; as compared to other variants which are dominant mutations) has no impact. And while it seems to be popular to dismiss the idea of recessive traits, it is estimated that every person has an average of 5-10 mutations, most of which never express themselves. (And on a more simple and concrete example, the genetics of the chestnut color, which is recessive and requires two copies to be expressed.)
So at this point the question to determine is if WFFS is a recessive trait, or some other form (partial or co dominance). Currently there are known carriers who withstood rigorous competition and breeding careers across disciplines with no catastrophic injuries that stymied their success. By comparison, the author of the racing articles is asserting that one copy is enough for equine physiology to “implode” (his word). Asking questions or presenting hypotheses to test are great ways to continue to expand information. But presenting a theory as fact with no peer reviewed research (or even being able to say “each horse who broke down was tested and found to be a carrier of WFFS”! He doesn’t even have that information to present!) is grossly irresponsible.
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Sorry, it’s just not that absolute at the cellular or molecular level. Dominant and recessive were used to characterize modes of inheritance as determined by easily observable phenotype alone long before anyone knew how genes worked. They’ve outlived their usefulness.
Hemophilia may be a useful example here. Defined as a sex-linked dominant ages ago, it’s now known to be due to various mutations in the Factor VIII or Factor IX genes on the X chromosome. Female carriers almost always produce enough fully functional VIII or IX that they’re not at risk for life-threatening hemorrhage but not enough to keep their coagulation times from frequently exceeding textbook norm.
The label we put on inheritance of FFS doesn’t really matter. What does is whether or not carriers produce sufficient fully functional enzyme to be reasonably regarded as physiologically sound. It’s possible that they do and this was all much ado about nothing. Dr. W. seems to think otherwise & says proof is to come but her recent actions are puzzling.
It’s pretty unusual for an academic to go public with major findings before they’re published. Allowing her name to be associated with what seems, at least to me, to be grossly irresponsible and unwarranted conclusions that HRI has published is especially curious.
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Hi everyone. I am the breeder of the wffs foal born last year. I would just like to make a few points here in response to some of this thread.
- Nena Winand received nothing from the original tests patented by Cornell and sold to Animal Genetics and Labkolin. As their employee, the patent belonged to Cornell. I don’t know about UC Davis and the new tests.
- When my foal was born, and we found out what it was, I was denounced and derided by a number of stallion owners in Europe, and the big registries. They also said it was a NA problem, never seen in Europe, or American vets were misdiagnosing a flu varient!
- I started getting many messages from EU breeders who had had foals with similar issues, but been dismissed as premature/dysmature foals which MY foal was initially by the big vet hospital here.( It took some skin coming off in THEIR hands to believe me.) They were also questioning if this was why certain matings just never ‘took’ - natures way perhaps?
So for any breed industry it should not be surprising that the initial response is denial, based on ’ we’ve never had a foal born with it’ . Neither had any warmblood registry as far as they were concerned because no-one ever tested the dead foals for an unheard of problem! It was a complete fluke that a vet tech at A&M had been to a seminar about HERDA, where the 2012 paper on wffs was mentioned, told the vet, who asked me if they could test - otherwise mine would have been consigned to the dysmature dummy heap like others. Since testing became more widespread, I believe the percentage of carriers is now running around 18% double what was thought.
If the JC does not want to run stats, which with all that DNA they could do, then the only recourse is for owners to do it. We already know some TB’s are carriers, what is really needed is an analysis of how many breedings do not produce live foals standing and nursing. That would certainly concentrate peoples thought, because of the expense involved.
Lots of people have asked me why I went public, and I can only say that I am passionate about breeding performance horses, but am not wealthy enough to just write off a failure. I love these creatures, and anything we can do to improve their wellbeing and athleticism has to be good - and that includes being aware AS THEIR CREATORS of problems we are spreading through the world wide herd.
I am not a scientist, but if you read enough about Elhers, WFFS, connective tissue failure, collagen fibers etc, it’s pretty clear they are (forgive the unintended pun) connected at a genetic level. We just don’t know how, yet. Seems to me that the horse industry would want to fund this kind of research for the betterment of all the equines we produce.
Just my thoughts 
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Your bravery and tenacity will help save countless lives, he did not die in vain. Thank you.
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I know that in Germany many breeders/owners/vets/individuals in general believe that WFFS is not a thing. It baffles me but also doesn’t surprise me. The ignorance, “old ways” and strange pride that blinds them from seeing anything else is quite common. Germany produces many quality horses and equestrians, but man we can be so antiquated here that it blows my dang mind. It’s incredibly frustrating if you want to, you know, live in modern times. I’m not saying everyone is like this, but there is just a lot of unfounded and weird assumptions…and a lack of willingness to change or consider new ideas. I have literally gotten into countless conversations that ended with, “Yes, that really makes sense! But this (nonsensical outdated) is the way it is.” okkk.
I don’t get why people can’t just consider and investigate the matter. It doesn’t mean that your registry or breeding program is a fail. Ignoring the issue and not pursuing any further action on the matter is a fail. That is a disgrace to your registry and breeding. You’re breeding (ideally) to enhance or preserve quality. Therefore you cannot dismiss such an issue.
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I had my Thoroughbred stallion tested and he is not a WFFS carrier, despite the fact that he has Bay Ronald 103 times in his pedigree.
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I am so glad your stallion tested clear Elles.
I still think of him as a living flame. I hope he is doing well and I hope you are doing well too.
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This is just human nature, not limited to Germans. Think about how long some elements of American TB racing have fought about the use of race-day lasix.
What a random analogy Viney.
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Has there been any connection with foals born without an eye or two to WFFS. I have seen more than I care to have in my time involved in breeding warmbloods. None of mine personally, but there is definately a bloodline connection in the ones I’ve seen.
