Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati
Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) mutations have been identified in Maine coon cats (A31P and...
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| Formato: | Otro |
| Lenguaje: | sueco sueco |
| Publicado: |
2007
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| Materias: | |
| Acceso en línea: | https://stud.epsilon.slu.se/11735/ |
| _version_ | 1855571928397381632 |
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| author | Ödling, Sofie |
| author_browse | Ödling, Sofie |
| author_facet | Ödling, Sofie |
| author_sort | Ödling, Sofie |
| collection | Epsilon Archive for Student Projects |
| description | Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) mutations have been identified in Maine coon cats (A31P and A74T) and one in Ragdoll cats. All three of them seem to cause familial HCM in an autosomal dominant pattern.
The purpose of this study was to investigate the presence of these three mutations in population cats of different breeds with HCM in Sweden. The results may show if HCM is present in the absence of these mutations. Thus, the value of genetic tests to identify HCM will be evaluated.
Blood samples were collected from 21 cats (8 different breeds), diagnosed by echocardiography, with focal or concentric hypertrophy ≥6 mm of the left ventricle. Two out of four Maine coon cats were homozygous for the A31P mutation but all other cats were negative for that mutation. The "Ragdoll mutation" was identified in the only Ragdoll cat in our study, and the A74T mutation in eight of the cats (different breeds). One of these eight cats were homozygous and seven heterozygous. The presence of the A74T mutation has not yet been established in three of the cats.
The presence of the A31P and "Ragdoll" mutation is consistent with previous published studies concerning Maine Coon and Ragdoll cats. For that reason it may be valuable to analyse Swedish Maine Coon and Ragdoll cats for respective mutation. The fact that the A74T mutation was identified in 44 % of the cats can be due to a dissemination of a pathological mutation into several breeds, but more likely, it may be a non pathological variation in the genome, so called polymorphism. The cats that were negative for all three mutations could have myocardial hypertrophy secondary to other disease, or another, so far unknown, mutation causing HCM. Since most of the cats have moderate to severe changes, and no other known disease that could have caused the hypertrophy, the last alternative is most likely. It is concluded that the genetic tests of today are not reliable in ruling out HCM in cats of different breeds. They may, however, be useful for guidance when breeding with Maine coon and Ragdoll. Echocardiographic screening for HCM is obviously necessary in the future to rule out HCM. |
| format | Otro |
| id | RepoSLU11735 |
| institution | Swedish University of Agricultural Sciences |
| language | Swedish swe |
| publishDate | 2007 |
| publishDateSort | 2007 |
| record_format | eprints |
| spelling | RepoSLU117352017-11-16T12:46:42Z https://stud.epsilon.slu.se/11735/ Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati Ödling, Sofie Veterinary science and hygiene - General aspects Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) mutations have been identified in Maine coon cats (A31P and A74T) and one in Ragdoll cats. All three of them seem to cause familial HCM in an autosomal dominant pattern. The purpose of this study was to investigate the presence of these three mutations in population cats of different breeds with HCM in Sweden. The results may show if HCM is present in the absence of these mutations. Thus, the value of genetic tests to identify HCM will be evaluated. Blood samples were collected from 21 cats (8 different breeds), diagnosed by echocardiography, with focal or concentric hypertrophy ≥6 mm of the left ventricle. Two out of four Maine coon cats were homozygous for the A31P mutation but all other cats were negative for that mutation. The "Ragdoll mutation" was identified in the only Ragdoll cat in our study, and the A74T mutation in eight of the cats (different breeds). One of these eight cats were homozygous and seven heterozygous. The presence of the A74T mutation has not yet been established in three of the cats. The presence of the A31P and "Ragdoll" mutation is consistent with previous published studies concerning Maine Coon and Ragdoll cats. For that reason it may be valuable to analyse Swedish Maine Coon and Ragdoll cats for respective mutation. The fact that the A74T mutation was identified in 44 % of the cats can be due to a dissemination of a pathological mutation into several breeds, but more likely, it may be a non pathological variation in the genome, so called polymorphism. The cats that were negative for all three mutations could have myocardial hypertrophy secondary to other disease, or another, so far unknown, mutation causing HCM. Since most of the cats have moderate to severe changes, and no other known disease that could have caused the hypertrophy, the last alternative is most likely. It is concluded that the genetic tests of today are not reliable in ruling out HCM in cats of different breeds. They may, however, be useful for guidance when breeding with Maine coon and Ragdoll. Echocardiographic screening for HCM is obviously necessary in the future to rule out HCM. Hypertrofisk kardiomyopati (HCM) är den vanligaste hjärtsjukdomen hos katt. Fenotypen kan variera från fokal och relativt lindrig förtjockning till en kraftig generell koncentrisk hypertrofi av vänster kammare. Hos katt har man hittat två separata mutationer hos maine coon (A31P och A74T) och en mutation hos ragdoll som alla tycks kunna orsaka HCM. Dessa tre mutationer ligger i myosin binding protein C3 genen (MYBPC3) och nedärvningen är beskriven som autosomal dominant. Syftet med detta arbete är att se om de tre hittills kända mutationerna i genen MYBPC3 kan påvisas hos en population katter av olika raser med HCM i Sverige. Resultaten förväntas visa huruvida HCM förekommer i frånvaro av de beskrivna mutationerna, och kommer således att svara på frågan om HCM kan uteslutas med hjälp av dessa gentester eller ej. EDTA prover samlades in från 21 katter (8 olika raser) som vid ekokardiologisk undersökning hade en lokal eller generell hypertrofi av vänster kammare som var �6 mm. Resultaten visade att två av totalt fyra maine coon katter i vår population var homozygota för mutation A31P, medan resten av katterna var negativa för denna mutation. ”Ragdoll mutationen” påvisades endast hos den ragdoll katt som deltog i studien (homozygot) medan mutation A74T fanns hos åtta av katterna (blandade raser) varav en katt var homozygot och sju heterozygota. Förekomst av mutation A74T har ännu ej kunnat fastställas hos tre av katterna. Förekomsten av mutation A31P och ”ragdoll mutationen” i vår kattpopulation stämmer väl överens med tidigare publicerade studier och det är därför indikerat att gentesta maine coon och ragdoll för respektive mutation även i Sverige. Ett negativt resultat utesluter dock inte HCM. Att mutation A74T förekommer hos ca 44 % av katterna kan tyda på att denna sjukdomsassocierade mutation är spridd bland många olika kattraser, men mer troligt är att detta är en icke sjukdomsorsakande genetisk variation, så kallad polymorfism. De katter som visat sig vara negativa för dessa tre mutationer kan antingen ha en annan sjukdom som ensamt orsakat hypertrofin eller så har en hittills okänd mutation orsakat HCM hos dessa katter. Då de flesta negativa katterna hade måttliga till kraftiga förändringar, och inga kända övriga sjukdomar som kan ha orsakat hypertrofin, anses det sist nämnda alternativet som mest troligt. Om mutation A74T visar sig vara en icke sjukdomsorsakande mutation så gäller denna diskussion även de katter som är positiva för denna mutation. Slutsatsen är att dagens gentester ej kan användas för att utesluta diagnosen HCM. De kan dock användas som vägledning vid avel inom raserna maine coon och ragdoll. Att fortsätta använda ekokardiografi är viktigt för att kunna identifiera katter med HCM orsakat av andra mutationer. 2007-12-27 Other NonPeerReviewed application/pdf sv https://stud.epsilon.slu.se/11735/1/odling_s_171116.pdf Ödling, Sofie, 2007. Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati. UNSPECIFIED, Uppsala. Uppsala: (VH) > Dept. of Clinical Sciences (until 231231) <https://stud.epsilon.slu.se/view/divisions/OID-715.html> urn:nbn:se:slu:epsilon-s-8893 swe |
| spellingShingle | Veterinary science and hygiene - General aspects Ödling, Sofie Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title | Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title_full | Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title_fullStr | Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title_full_unstemmed | Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title_short | Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati |
| title_sort | förekomst av mybp-c mutationer hos katter med hypertrofisk kardiomyopati |
| topic | Veterinary science and hygiene - General aspects |
| url | https://stud.epsilon.slu.se/11735/ https://stud.epsilon.slu.se/11735/ |