Wikipedia talk:Featured article candidates/New Forest pony/archive1

Myotonia tweaks: I think we need to hash this out here because I am finding it really confusing to work on at the FAC Page. Is that OK?

I agree that the single block of text on the FAC page is hell to navigate. At the same time, I feel that the objections listed here are mostly redundant. —MistyMorn (talk) 13:13, 13 June 2012 (UTC)

Current version (Misty)

The one known hereditary genetic disorder found in the breed is an autosomal recessive form of congenital myotonia – a muscular condition also found in humans and goats caused by mutations in the gene encoding CLCN1, a protein which regulates the electrical excitability of the skeletal muscle membrane. In 2009, a researcher in the Netherlands first spotted clinical signs of the condition in a New Forest pony foal which was falling down after exercise; laboratory analysis revealed a missense mutation in the CLCN1 gene, which was also detected in both the foal's parents (in a recessive disorder both parents have to contribute a copy of the mutated allele for the offspring to be physically affected). In order to gain the information needed to develop an appropriate prevention strategy, researchers at the University of Bern are currently trying to determine which stallion lines carry the mutation.

Previous version (MTBW)

The only known genetic disorder found in the breed is congenital myotonia, a hereditary muscle disorder, which was identified in 2009 in a New Forest pony foal by researchers in the Netherlands, the first time the condition had been identified in equines. Mutations in the CLCN1 gene are causative for similar conditions in goats and humans. Therefore researchers hypothesized a polymorphism of CLCN1 as a possible cause in horses. A mutation analysis found the affected foal was homozygous for a missense mutation (c.1775A>C, p.D592A) in CLCN1. The mutated allele has a recessive mode of inheritance in the foal's family, meaning that both parents must contribute a copy for a foal to develop clinical signs. Current studies are trying to determine which stallion lines carry the disorder.

Discussion

Here are my concerns with the current version (not that previous is perfect, either) Montanabw^(talk) 19:53, 12 June 2012 (UTC)

1. "caused by mutations in the gene encoding CLCN1, a protein which regulates the electrical excitability of the skeletal muscle membrane."

   Problems include a need for a citation, or chop that bit, I don't "know" that CLCN is a protein, I've had FAs where someone challenges that the sky is blue. Also have trouble with "caused" as now that I have the full article, the allele in horses is not quite the precise one in, for example, fainting goats.--MTBW

   Please take the time to read the CLCN1 page. As I've written on my talk page (I've just hit this series of objections now): The second sentence on the CLCN1 page reads "The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane." In the Wikipedia article, this information is automatically transcluded by a Bot from Online Mendelian Inheritance in Man (OMIM): CLCN1 - 118425. On the New Forest Pony page, I felt it was important to provide the general reader with some indication of the protein's function to avoid inadvertently giving the false impression that the mutation somehow magics up the disease. —MistyMorn (talk) 00:53, 13 June 2012 (UTC)

   Can we just put that citation in, then? I DO see your point about false impressions, that makes sense! Montanabw^(talk) 21:08, 13 June 2012 (UTC)

   No problem —MistyMorn (talk) 22:54, 13 June 2012 (UTC)

2. Last sentence: The Horse article doesn't say it's the Swiss looking for the stallions, only that they are doing "exhaustive research." I think that exceeds the source. Looked at UBern, they don't list it as a project yet,only Utrecht says they've asked--MTBW

   The Horse says A specialized research laboratory at the University of Bern, Switzerland, has been asked to conduct exhaustive genetic research into this phenomena ... Researchers are currently studying which stallion lines carry the defective gene in order to develop an approach to prevent the spread of the disease among New Forest ponies. Anyone with experience of research methodology can understand from The Horse that that is the line of research the Bern laboratory has been asked to participate in. Doubtless they're not alone. In fact, their work will almost certainly be coordinated with Wijnberg (and his group) who is clearly interested in reaching a viable preventive solution.

   I also really don't understand your objection about publication of project approval. Our text doesn't even mention the word "project". —MistyMorn (talk) 00:53, 13 June 2012 (UTC)

   I looked at the U Bern website and couldn't find ANYTHING on them researching this, though they do seem to research some other forms of myotonia in other animals. I did find Utrecht's press release, where the "asked to conduct" statement is, but NO correlation to the research into stallion lines. So basically, I think we are reading too much into it. JMO, anyway. Montanabw^(talk) 21:08, 13 June 2012 (UTC)

   I don't see the problem. Genetic analysis of the stallion lines is, as stated, a key step, and if the Bern laboratory has been asked to participate they will certainly be involved in it. There's no particular reason why a multicentre project, as this one presumably is, need be registered specifically on the Bern University website. Anyway, I don't want to argue the point. I just feel the earlier version was simpler, tidier and clearer. And it didn't have to end in [sic]! —MistyMorn (talk) 22:54, 13 June 2012 (UTC)

3. Like 2009 up front, we could note the 1962 find, the full text does, saying "...the first case of suspected equine myotonia... dug and dug, could not get full text of the 1962, only an abstract that did not specify breed. Montanabw^(talk) 20:23, 12 June 2012 (UTC)

   Per WP:BURDEN. I can't understand why you're insisting on this point, or where indeed you got the impression that this was the first case of congenital myotonia recognized in equines (thehorse.com only says Congenital myotonia has never before been diagnosed in New Forest ponies). At FAC I sent you the link to what I believe may be the first case clinically recognized in equines, but I also sent links to two review articles ([1], [2]), albeit without open access. Also, this article happens to be free. —MistyMorn (talk) 00:53, 13 June 2012 (UTC)

   Um, the Horse says, in the next paragraph, "Myotonia is a hereditary muscular disease that had only been known to occur in goats and canines until this discovery. "  :-) Montanabw^(talk) 21:08, 13 June 2012 (UTC)

   The 18395447 and 16022342 article abstracts basically, I think, prove my point; there are a LOT of different genetic muscular diseases in horses, and so this particular one in the NF pony is not the same as that in other breeds, as far as we know at the moment. (Clinical signs are different, too) And PMC1263504 is not about the same disease, Quarter Horses have several muscle diseases, but none are congenital myotonia, these are different, HYPP (gene is SCN4A), PSSM, etc. So that article is irrelevant. Montanabw^(talk) 21:08, 13 June 2012 (UTC)

Yes, PMC1263504 just happened to be freely available and, indirectly, touch on the subject. (The abstracts of PMID 18395447 and 16022342 do not prove anything.) —MistyMorn (talk) 22:37, 13 June 2012 (UTC)

1. "Foals with myotonia cannot be used as athletic or pleasure horses, and even at rest they can display clinical signs." We will get into big trouble with the copyvio police, we need to not crib that verbatim. Montanabw^(talk) 20:23, 12 June 2012 (UTC)

   What "crib"? How can this overt quotation from the reference (using Wikipedia's quote parameter in the Cite web template) be considered copyvio? Adding: However, to avoid any possible concerns I've removed the quotation - apart from the last sentence, most of the concepts are already incorporated in the main text of the article. —MistyMorn (talk) 00:53, 13 June 2012 (UTC)

   If in quotation marks, it's OK, just not as unquoted text, even with attribution, the Copyvio cops are really quite rigid on this if they want to be. I survived the massive review and cleanup of the copyvios of the ItsLassieTime sockpuppet and mostly "clearing" the copyvio case on Vanished 6551232. So I'm gun shy, OK? ;-) And thanks. Montanabw^(talk) 21:08, 13 June 2012 (UTC)

   It was all in quotation marks, per the quote parameter in the template. Maybe the quotation was a bit lengthy though. And we don't currently have quotations appended to any of the other references. —MistyMorn (talk) 22:58, 13 June 2012 (UTC)

Suggested rewrite (Montanabw)

The one known hereditary genetic disorder found in the breed is congenital myotonia, a hereditary muscle disorder also found in humans, dogs and goats. It was identified in 2009 in a New Forest pony foal by researchers in the Netherlands, after a member of the faculty noticed a New Forest pony foal falling down following pasture exercise. Although a suspected equine case of myotonia was reported in 1962, this was the first time the molecular genetic cause was analysed. A mutation analysis found the affected foal was homozygous for a missense mutation in the CLCN1 gene. CLCN is a protein which regulates the electrical excitability of the skeletal muscle membrane. The allele was heterozygous in both the foal's parents, all of its siblings, and two other related animals, none of whom exhibited any clinical signs. Therefore, researchers concluded the condition has a autosomal recessive form of inheritance and both parents have to contribute a mutated allele for an affected foal to be produced. Researchers are currently trying to determine which stallion lines carry the mutation, New Forest pony breeders have helped with prevention efforts, and Utrecht University has asked the University of Bern to conduct "exhaustive research."

"...this phenomena [sic]"? This account contains some additional information from the full article by Wijnberg et al which I haven't yet been able to access. —MistyMorn (talk) 14:26, 13 June 2012 (UTC)

True, I've emailed you the article now, I hope that helps. And yeah, it's a direct quote, So English is not the native language of the folks at Utrecht. I've linked to their press release now too, which The Horse slightly screwed up. Montanabw^(talk) 21:25, 13 June 2012 (UTC)

That's really helpful. I have to admit though there are certain things in the latest BRD which, as a professional medical writer, I don't really feel comfortable with. Including that embarrassing sic quote! But I'm beyond reverting... —MistyMorn (talk) 22:34, 13 June 2012 (UTC)

Feel free to point out your concerns, I'm glad to add in what we need. I'll toss ("sic") maybe do a rephrase so we don't have to use the verbatim quote. Better?Montanabw^(talk) 16:17, 14 June 2012 (UTC)

Final version

Plopped the above version into article. If it isn't OK, then we can BRD again. Montanabw^(talk) 21:34, 13 June 2012 (UTC)

Following recent edits by the three currently involved editors (ie Pesky, MTBW, Misty), propose current version as a basis for discussion:

The one known hereditary genetic disorder found in the breed is congenital myotonia, a hereditary muscle disorder also found in humans, dogs and goats. It was identified in 2009 in a New Forest pony foal by researchers at Utrecht Universityin the Netherlands, after a member of the Utrecht University faculty noticed the foal falling down following pasture exercise. When the molecular genetic cause was investigatedanalysed (no!), DNA sequencing revealed that the affected foal was homozygous for a missense mutation in the gene encoding CLCN1, a protein which regulates the electrical excitability of the skeletal muscle membrane. The mutated allele was found in both the foal's parents, its siblings, and two other related animals, none of whom exhibited any clinical signs. The researchers concluded that the condition which affected the pony has an autosomal recessive mode of inheritance, whereby both parents have to contribute the mutated allele for a physicallyan affected foal to be produced. The study suggested that the mutation was of relatively recent origin: the founder of the mutated gene may have been a stallion who was both the paternal grandfather (on the sire side) and maternal great grandfather (on the dam side) of the affected foal, as all the ponies who tested positive for the mutation are direct descendants of this stallion. Researchers are currently trying to determine which stallion lines carry the mutation, and a specialized laboratory at the University of Bern has been asked to contribute to genetic studiesconduct additional research; New Forest pony breeders are also collaborating with prevention efforts.

updated —MistyMorn (talk) 16:45, 15 June 2012 (UTC)

A small technical note: Per WP:ITALICS, the CLCN1 gene encodes the CLCN1 protein. To keep it simple we can either something like "...a missense mutation in the CLCN1 gene, which encodes a protein responsible for regulating the electrical excitability of the skeletal muscle membrane", or something along the lines of the version above.

—MistyMorn (talk) 14:11, 15 June 2012 (UTC)

That reads fine to me, and (as per chat on MM's talk) it's as far as we can go in the article at present. The names of three known carriers have been published by the Netherlands group, but we don't want to violate WP:UNDUE (or OR or SYNTH or RS or anything else, ahem!) by including things which shouldn't, at this stage in the proceedings, be included ;P Pesky (talk) 14:24, 15 June 2012 (UTC)

"...after a member of the Utrecht University faculty [which?] noticed the foal falling down following pasture exercise." That's pretty much what The Horse says, but according to Wijnberg 2012: A 7-month-old New Forest pony stallion was presented to the Equine Clinic of Utrecht University. During the first 4–6 weeks of life the foal had developed normally. Main abnormalities observed by the owner were recurrent episodes of recumbency and difficulty rising to its feet as a result of muscle stiffness. I'd trust the scientific report here over the journalist's take on the story. Suggest rewriting the sentence. Perhaps something like: The condition was identified in a New Forest pony in the Netherlands in 2009, when a foal was presented to the Equine Clinic of Utrecht University due to signs of muscle stiffness.

I agree we are close and should stick to the published article where there are discrepancies, or just cut that bit altogether, though note that the Horse pretty much cribbed the Utreht press release on that point. Other than that, I do feel quite strongly we are getting into WP:SYNTH territory that Bern was asked to "contribute to genetic studies." What our sources say is that they have a lab that can do specialized work, and I believe they have some specialization on muscle disorders themselves, (they have a project there on "pseudomyotonia" in another species of livestock) as well as being one of the leading labs in Europe on horse genetics stuff, partly due to the presence of geneticist Dr. Tosso Leeb, who contributed to the horse genome project. So because they could be focusing on both, or neither, I beg you to just keep the other version in general terms until we have more details. I also want to keep a couple of terms closer to the source and cut a few unneeded words and parentheticals. So I will do strikeout and underline above with what I'd prefer to see. Let me know if my edit suggestions are OK with all. Montanabw^(talk) 18:54, 15 June 2012 (UTC)

I'm happy to trust whatever both of you are happy with, with a preference to sticking to the wording closest to the actual Wijnberg & Co. research rather than subsequent reinterpretations of it. MTBW, do you know if Gabriella and the folks at Uppsala are involved at all? I haven't been able to contact her recently (she was also heftily involved in the genome project IIRC). Pesky (talk) 20:39, 15 June 2012 (UTC)

Yes, we needn't mention Bern, and the final sentence works very well like that, really giving an idea of the scientific basis for the prevention efforts.

Regarding details:

• Analytic methods such as mutation analysis and pedigree analysis are being used to investigate causality.
• physically affected: to communicate implicitly to our general readers that the phenotype is affected here, whereas in "healthy carriers" the phenotype is unaffected but the genotype remains a potential reservoir of the disease.
• which affected the pony signals what 'condition' we're talking about (ie this specific one, as distinct from congenital myotonia in general). Ok, probably better without, given the next clause...
  —MistyMorn (talk) 22:03, 15 June 2012 (UTC)

OK, I'll put in some changes noted above I think were missed. If I got anything wrong, just revert or something. Montanabw^(talk) 23:10, 15 June 2012 (UTC)