Largest DNA-based study - info. on Pyruvate Kinase Deficiency in Maine Coons

-

A brand-new study published on June 16, 2022 which researched inherited diseases linked to a wide range of purebred cats and including non-pedigree cats, is proving useful. It is the largest DNA-based study of domestic cats to date according to the scientists. In all, 11,036 individual cat were genotyped. They included 10,419 pedigreed cats and 617 non-pedigreed cats. 

DNA testing. Image: Pixabay.

They were looking into the "distribution and frequency of known disease, blood type and physical trait associated genetic variance across cat breeds". I interpret this to mean that they were investigating inherited diseases in purebred cats and comparing that with non-purebred cats. I might oversimplify their stated objectives but it needs to be simplified.

However, I am able to, I hope, simplify it having read hundreds of studies over the years. I'm going to go over some inherited diseases concerning the Maine Coon cat as reported by this study which may interest cat breeders and cat owners alike. They have not reported on hip dysplasia and patella luxation in this report, both well-known inherited diseases in the Maine Coon.

I have focused on Pyruvate Kinase Deficiency as it is the most prevalent as reported by these scientists. Here is their list concerning the Maine Coon.

  • Cystinuria Type B - prevalent ('derived allele prevalence') in 3 Maine Coon cat out of 1971 or 0.2%;
  • Factor XII Deficiency - prevalent in 195 Maine Coon cats out of 1964 cats representing 9 .9%;
  • Hypertrophic cardiomyopathy (HCM) - prevalent in 163 out of 1971 cats or 0.8%;
  • Pyruvate Kinase Deficiency - prevalent in 280 cats out of 1955 cats representing 14.3%;
  • Spinal Muscular Atrophy - found in 11 out of 1971 cats representing 0.6%;

There seems to be a relatively high or modestly high prevalence of Pyruvate Kinase Deficiency. So, what is it? It is a condition in which red blood cells break down faster than they should. It can lead to anaemia due to not enough red blood cells being present. It occurs in humans and people with this disease lead a healthy life. 

It appears to be caused by a mutation in a gene this results in pyruvate kinase enzyme breaking down a chemical compound called adenosine triphosphate. Because the enzyme is deficient there is a lack of adenosine triphosphate which leads to dehydration of red blood cells and abnormal blood blood cells shapes resulting in a shortened lifespan leading to haemolytic anaemia in humans. I will take it that something similar if not identical occurs in cats.

The researchers stated that Factor XII Deficiency and Pyruvate Kinase Deficiency are widespread blood disorders in the cat population. Deficiencies have been documented in the following breeds: Himalayan, Maine Coon, Manx, Munchkin, Oriental Shorthair, Persian, Ragdoll, Siberian, and Siamese.

Interestingly, the researchers interviewed Maine Coon cat owners concerning this disease. All of the cats were 3 years old or younger at the time of the interview. In 30% of the owners, they reported "at least one mild potential episode with clinical signs such as lethargy, anorexia, weight loss and/or jaundice. One male Maine Coon, aged one year and 5 months, "became severely ill with anorexia, lethargy, and significant weight loss down to approximately 8 pounds from 17 pounds. Another male had episodes of mild lethargy and hyporexia.

Study title: Genetic epidemiology of blood type, disease and trait variants, and genome-wide genetic diversity in over 11,000 domestic cats published on: /journals.plos.org.

Comments

Post a Comment

Please share your Maine Coon experiences.

Popular posts from this blog

The extreme Maine Coon face

-
Image
This is an example of extreme breeding. This is a Maine Coon but this cat is an extreme and rare example of this breed. This is not the way they look normally. This face is almost like an aggressive robot with the piercing eyes and the huge muzzle.  Or like a lion's head. The head looks enormous and very heavy. It looks unreal. But it also looks very impressive.  And purchasers like impressive-looking domestic cats. But this not the face of a Maine Coon that wins cat show competitions as it does not fit the breed standard as accurately as the more moderate winners (see below).  In fact, the CFA standard is clear in that the cat should have a balanced appearance although this cat was not bred under the CFA breed standard as I understand it (see below).  Click here for more on the kind of MC which wins at shows . Maine Coon selectively breed to have an extreme face. Image in the public domain. And the Maine Coon is meant to be a large cat, the largest domestic cat breed and there
Read more

Eerie picture of a Maine Coon sitting like a human on a chest of drawers

-
Image
This is a slightly scary picture according to those who've seen it. One social media user said it was the devil and "If I walked into a room and saw that, I would assume some shit is about to go down". There is a ghostly stillness and sinister feeling about the image. 'Eerie' is a better description. This attractive cat appears to be completely at ease and comfortable sitting on top of a chest of bedroom drawers. The lighting from below (deliberate?) enhances the eerie effect. It seems possible that this is a photo-edited image but if so, it has been done with great skill. However, I don't think this is Photoshopped. Rethink: to be honest, the more I look at the picture, the more I feel that this is a photo-edited image. It is just too unnatural to be real. Although some domestic cats get themselves into some very strange positions. Maine Coon calmly sitting just like a human on a chest of drawers. Picture source unclear. Image deemed to be in the public d
Read more

Black smoke Maine Coon Richie with a black face and diamond eyes

-
Image
Black smoke Maine Coon Richie with a black face and diamond eyes. Photo: Instagram. OMG, this is a Maine Coon with an amazing face. His full name is "Richie du Mont d’Even". I think he has a black smoke coat which has created this black face with the assistance of other genes (polygenetic influence?) and ears with piercing, diamond eyes. This is a very special cat. Richie looked very interesting but relatively plain as a kitten. Image: Instagram. His paws are balls of fluff. He has a mane that goes over his head like a halo. He's angelic and other-worldly. The lynx tips on the end of his ears are smoky grey which makes them stand out. They are a bit like the opposite to the black lynx tips of the wild caracal.  He lives in France with his human: Adriana Piraino. He was born on 7th November 2020. He is still very young. They say Maine Coons reach adulthood at around the age of 4. He is going to be enormous as well. Richie with Adriana. Photo: Instagram Richie was bred b
Read more

Parisian Maine Coon 'crème et blanc'

-
Image
PARIS: This is a handsome Parisian Maine Coon described by his human caretaker as: "My little lynx Jiyuu of Roswell Maine Coon crème et blanc 19 mois mâle". The translation is: his name is Jiyuu of Roswell. His coat is cream and white. He is 19 months old. Oh, and his is damned handsome. The photo is by his guardian: Lunatique- girl . Cream and white Maine Coon living in Paris, France. Photo: Lunatique Girl. It is a really nice Maine Coon photo of a really nice Maine Coon with an interesting coat colour. I think the main colour is more milk chocolate, cappuccino or fawn! Anyway, super-looking cat. Is he a cream tabby? I think so.
Read more

No part of a Maine Coon cat should be exaggerated

-
Image
It is interesting to read that the premier cat association, the CFA (Cat Fanciers' Association) - the cat association which really dictates (with TICA) how Maine Coons should look - makes it clear that no part of the cat should be exaggerated, and the cat should be "well-proportioned and balanced".  In other words, any form of extreme appearance such as a particularly heavy muzzle or particularly large ears with extra-long lynx tips are not going to be seen as advantageous in terms of winning cat shows or in terms of having an ideal appearance. As soon as I read that no part of a Maine Coon should be exaggerated, I immediately thought of the extremely large, extreme-bred Maine Coon cats that often come from Russia. These cats have very heavy muzzles.  Lion-faced Maine Coon with exaggerated features. Image in public domain now. In fact, their heads look like the heads of lions. I get the impression that breeders have selectively bred their cats over years to look like male
Read more

Maine Coon size versus dog size?

-
Image
People want to know how the size of the Maine Coon compares to the size of a dog. You probably realise that it is impossible to answer this question because dog size varies enormously. This is due to selective breeding over about 20 years or more. And, it has to be said, the size of the Maine Coon also varies considerably.  A Beagle versus a large Maine Coon comparing size. Image: MikeB based on images in the public domain. Here is another image comparing a Beagle and a standard Maine Coon from a YouTube video: Standard Maine Coon versus a Beagle comparing size. Screenshot. Small-to-medium-sized dog compared to a Maine Coon size. Image in public domain. This looks like a small Maine Coon. And here is a Golden Retriever and Maine Coon playing. This dog breed is quite large: People get the impression that all Maine Coons are always huge but they are not. Maine Coons can be a little larger than standard domestic cats (small female for instance) but in general they are considerably larg
Read more

Should a Maine Coon cat be neutered later than regular cats because of their slow development?

-
Image
The general consensus is that Maine Coon cats take up to 4 years to become adults. And also, the general consensus by veterinarians is that neutering of male cats is best done when they are 6 or 7 months old. Puberty in regular male cats occurs between 4-7 months of age. Note: this is about male cats because the word 'neutering' applies to that gender. Females are spayed. Although, as you might know, the word "neutering" can also apply to general sterilisation. 6 months old male Maine Coon. Image: u/CZinvester on Reddit.com At puberty the male cat develops secondary sexual characteristics such as barbs on their penis and jowls (a chunky looking face). It is suggested that puberty in Maine Coon cats occurs a bit later than for regular cats because of their slow development and it might occur between 7-9 months of age. There is a certain degree of flexibility. You won't find a precise time. So, let's presume that if a Maine Coon cat is neutered at six months of
Read more

Dwarf Maine Coon cat?

-
Image
No, you won't get a dwarf Maine Coon cat. There is no formal cat breed which is a dwarf Maine Coon (MC) although there are about a dozen dwarf cat breeds which is strange because most people haven't heard of them. It would be a travesty of the distinguished Maine Coon cat breed to create a dwarf version. But is there is someone online discussing a Maine Coon x Munchkin mix. Well, I hardly read it because I can't see the point. Note : One study on Google Scholar reports on a Maine Coon kitten in Germany born with inherited dwarfism called metaphyseal chondrodysplasia. This is very rare as I understand it. This individual cat was a dwarf Maine Coon. The cat also suffered from rickets and other health issues. This was unplanned and unwanted. Fairly normal-sized Maine Coon. Photo: copyright Helmi Flick. Think about it. The MC is known to have a large and distinguished bearing. They are meant to be outstanding in that way. It is their raison d'etre. To cut them down to a s
Read more

2 top Russian Maine Coon cat breeders which ship internationally

-
Image
I am writing this from the West; specifically, near London, UK. There will be quite a few people living in the West who'd like to adopt a Maine Coon cat and they would like to adopt one from a Russian breeder because they do have a certain style.  I sense, although I don't have hard evidence to support this feeling, that the top Russian breeders of Maine Coon cats might be superior to breeders from other countries.  I am putting aside Putin's invasion of Ukraine when writing this article. Some people might object to dealing in anyway with a Russian business on account of that barbaric and illegal invasion. We should remember that Russia has quite a strong cat fancy. They like their cats and they love their purebred cats particularly the Maine Coon. It is in fact a cat breed which is quite naturally suited to the Russian way of life and climate. There's lots of space in Russia with a relatively low population and therefore there are going to be houses with large grounds
Read more

5 Maine Coon transformations from kitten to adult (video)

-
Image
Maine Coon kitten and his adult self. Photo: Robert Silka. This is a series of photographs by the very famous Maine Coon photographer: robert_sijka. I think he presents his photographs too dark as there is not enough information in the photographs for my liking but he takes great photographs of great Maine Coon cats. In this series he photographs a kitten and their adult version. Each individual cat is a wonderful example of the Maine Coon breed. I can count five examples. In my experience, these Google Blogger videos only work if you click the centre play button and then, immediately afterwards, the play button bottom-left! It sounds bad but the short video is worth watching.
Read more