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Gustafsson, Alice, 2024. P-glykoprotein-mutationen - ABCB1-1Δ hos collies i Sverige. Second cycle, A2E. Uppsala: SLU, Dept. of Anatomy, Physiology and Biochemistry (until 231231)

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Abstract

P-glykoprotein är ett effluxprotein som uttrycks på olika luminala ytor i flera organ, bland annat tarmväggen, njurtubuli, i leverns gallgångar samt i blodhjärnbarriären. Proteinet kodas av genen ABCB1 hos hund. En mutation i genen som orsakar en 4-baspars deletion finns hos olika vallhundsraser, däribland collie, och ger ett icke-funktionellt P-glykoprotein. Detta kan orsaka allvarliga läkemedelsbiverkningar, där det mest kända exemplet är ivermektin som ger neurologiska symptom hos collies med mutationen, så som kramper, blindhet och koma. Syftet med denna studie var att undersöka förekomsten av mutationen, som brukar kallas MDR1 eller ABCB1-1Δ, hos collies i Sverige då detta inte undersökts tidigare. Ytterligare en aspekt som undersöktes var om det fanns någon skillnad i förekomst av mutationen mellan långhårig collie och korthårig collie.
DNA samlades in genom kindsvabbprov hos de 125 hundar som deltog, varav 80 långhåriga collies och 45 korthåriga collies. Mutationen analyserades genom en PCR. Sammanlagt var det 48 % heterozygota hundar, 20,8 % av vildtyp och 31,2 % homozygota för ABCB1-1Δ. Av de långhåriga hundarna var 50 % heterozygota, 25 % av vildtyp och 25 % homozygota för ABCB1-1Δ, medan hos de korthåriga hundarna var 44,4 % heterozygota, 13,3 % av vildtyp och 42,2 % homozygota för ABCB1-1Δ. Skillnaden mellan hårlagen visades statistiskt signifikant genom ett chitvå-test. Resultatet för de långhåriga hundarna stämde överens med tidigare studier i andra delar av världen, medan resultatet för de korthåriga hundarna var unikt då ingen tidigare studerat förekomsten hos enbart de korthåriga hundarna i denna omfattning.
ABCB1-1Δ nedärvs autosomalt recessivt, vilket innebär att prevalensen kan minskas genom att genomföra olika avelsåtgärder. Korthårig collie, där förekomsten var högst, är en relativt numerärt liten ras och således kan det finnas andra faktorer som även behöver beaktas vid avelsurvalet. Att rekommendera genotypning innan avel kan dock vara ett sätt för uppfödare och potentiella valpköpare att göra medvetna val.

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P-glycoprotein is an effluxprotein that is expressed on different luminal surfaces in the body, such as the gut walls, renal tubuli, the canaliculi in the liver and the blood-brain-barrier. The protein is coded by the gene called ABCB1 in dogs. A mutation in the gene that causes a 4-base pair deletion exists in herding breeds, amongst others the collie, that causes a non-functional P-glycoprotein. This can cause serious pharmaceutical side effects, where the most known example is ivermectin which causes neurological symptoms in collies with the mutation, such as spasms, blindness, and coma. The purpose of this study was to determine the occurance of the mutation, which is commonly called MDR1 or ABCB1-1Δ, in collies in Sweden because it has previously not been studied. Another aspect that was studied were differences in occurance of the mutation between the rough collie and the smooth collie.
DNA were collected by a buccal swab from the 125 dogs that participated, of which 80 were rough collies and 45 were smooth collies. The mutation was analysed through a PCR. There were 48 % heterozygous dogs in total, 20,8 % wildtype and 31,2 % homozygous for ABCB1-1Δ. Out of the rough collies there were 50 % heterozygous, 25 % wildtype and 25 % homozygous for ABCB1-1Δ, while there were 44,4 % heterozygous, 13,3 % wildtype and 42,2 % homozygous for ABCB1-1Δ among the smooth collies. The difference between the coats were proved statistically significant through a chi-squared-test. The results of the rough collie was in line with previous studies performed in other parts of the world, while the results of the smooth collie were unique in the sense that the occurance among the smooth collies has not previously been studied in this extent.
ABCB1-1Δ is an autosomal recessive disease, which means the prevalence of the mutation can be reduced by different breeding measures. The smooth collie, which had the highest prevalence, is a relatively uncommon breed in Sweden and there could be other factors that breeders need to consider before determining which dogs to breed. Recommending genotyping before breeding could be an option so that breeders and potential buyers can make knowledgeable choices.

Main title:P-glykoprotein-mutationen - ABCB1-1Δ hos collies i Sverige
Authors:Gustafsson, Alice
Supervisor:Ekstrand, Carl and Löwgren, Mineva
Examiner:Tyden, Eva
Series:UNSPECIFIED
Volume/Sequential designation:UNSPECIFIED
Year of Publication:2024
Level and depth descriptor:Second cycle, A2E
Student's programme affiliation:VY009 Veterinary Medicine programme, 330.0hp
Supervising department:(VH) > Dept. of Anatomy, Physiology and Biochemistry (until 231231)
Keywords:P-glykoprotein, ABCB1, ABCB1-1Δ, MDR1, collie
URN:NBN:urn:nbn:se:slu:epsilon-s-19697
Permanent URL:
http://urn.kb.se/resolve?urn=urn:nbn:se:slu:epsilon-s-19697
Language:Swedish
Deposited On:07 Feb 2024 08:21
Metadata Last Modified:08 Feb 2024 02:06

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