Nové smrteľné dedičné ochorenie u Parson Russell Teriéra
JUVENILNÁ ENCEFALOPATIA (JBD)
V mojom prvom vrhu "A" som vo veku 7 - 7,5 týždna musela utratiť 2 choré šteniatka. Kontaktovala som niekoľko chovateľov z Európy a USA, ktorým umreli šteňatá vo vrhoch rovnakým spôsobom už pred niekoľkými rokmi. Všetky šteňatá mali rovnaké symptómy. Nebola objavená žiadna príčina aj napriek rôznym testom vykonaným veterinárnymi lekármi a pitvou. Žiadna zahájená liečba nebola úspešná. Zdalo sa mi, že je potrebné kontaktovať a pokúsiť sa do toho zapojiť odborníkov z genetického laboratória. Ako jediný prejavil záujem prof. Hannes Lohi (Koirangeenit) z Univerzity v Helsinkách, ktorý so svojim tímom zahájil výskum tohto nového smrteľného neurologického ochorenia u plemena Parson russell teriér. V tom čase som im poskytla vzorky celého môjho vrhu vrátane chorých šteniat, oboch rodičov a telo jedného z utratených šteniat.
Výskum tohto ochorenia bol úspešne ukončený.
Od 18.4.2018 je možné zakúpiť test v MyDogDNA, od konca mája 2018 aj v Laboklin.
Jedná sa o závažné ochorenie mozgu s nástupom približne vo veku 6-12 týždňov. Symptómy sú podobné epileptickým záchvatom. Ochorenie progreduje veľmi rýchlo a dochádza k nezvratnému poškodeniu mozgu. Ochorenie sa detí recesívne. Súčasťou štúdie bolo približne 400 Parson russell teriérov a 200 psov iných plemien teriérov. Mutácia génu sa zdá byť špecifická pre plemeno Parson Russell Teriér s frekvenciou 17% prenášačov.
U plemena Jack Russell Teriér nebola táto mutácia génu zaznamenaná!
Výskum tohto ochorenia taktiež pomohol k ukončeniu výskumu ochorenia Amelogenesis Imperfecta (AI). Jedná sa o dedičnú poruchu vývoja zubnej skloviny. Ovplyvňuje štruktúru, zloženie a množsto zubnej skloviny. Sklovina je mäkká, poddajná a nedostatočne kalcifikovaná. Zuby sú žlté až hnedé. U Parson Russell Teriéra bola nájdená genetická modifikácia génu ENAM. Do štúdie bolo zapojených približne 400 Parson Russell Teriérov s frekvenciou 9% prenášačov. Ochorenie je nedostatočne známe a často nediagnostikované. Spôsobuje však významný problém pre blaho psa.
Od 28.3.2019 je možné test zakúpiť v MyDogDNA.
V MyDogDNA je možné zakúpiť len celý balík DNA testov (PLL, SCA, LOA, JBD, AI, HU, DM,...) pre plemeno PRT za 99 €.
https://www.mydogdna.com/
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New genetic lethal disorder in PRT and Working jack russell terrier
JUVENILE BRAIN DISEASE (ENCEPHALOPATHY) - DNA test AVAILABLE
This DNA test is based on research performed in Professor Hannes Lohi’s canine genetics research laboratory at the University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, Finland with the work funded by Wisdom Health and Genoscoper Laboratories, providers of the MyDogDNA® (Europe) / Optimal Selection™ (United States) test.
Juvenile Encephalopathy is a severe brain disorder, with an early onset of around 6-12 weeks. Affected dogs suffer from epileptic seizures, with the disease progressing rapidly causing irreversible brain damage.
As part of the study leading to the research discovery, about 400 Parson Russell Terriers were screened indicating a recessive mode of inheritance and a breed carrier frequency of 17% for the novel discovered mutation. The research project continues with further functional studies and the results will be published in a peer-reviewed scientific journal in the future. Details of the study and the discovered mutation will then be publicly available.
This gene discovery has enabled the development of a genetic test for the disease in Parson Russell Terriers, which is offered pre-publication to allow management of this lethal and fairly common condition in breeding programs.
For Parson Russell Terriers, the MyDogDNA® test includes not only the Juvenile Encephalopathy DNA test, but also screening for spinocerebellar ataxia (SCA), late onset ataxia (LOA), primary lens luxation (PLL), hyperuricosuria (HUU) and Autosomal Recessive Severe Combined Immunodeficiency (ARSCID). Additional test results for inherited traits (e.g., coat color, coat type and body size) and genetic diversity level are also included. Testing for degenerative myelopathy (DM) is additionally available in the United States (Optimal Selection™).
For TEST ORDERING, and to learn more about genetic testing for your dog and its breed, please visit: www.mydogdna.com (Europe) or https://www.optimal-selection.com/optimal_selection_dogs/ (United States).
More at: http://www.mydogdna.com/blog/new-test-content-available-mydogdnaoptimal-selection-reports-juvenile-brain-disease
DNA test is also available at Laboklin - HERE!
This research also has led to the discovery of a genetic mutation responsible for Amelogenesis Imperfecta (AI) in Parson Russell Terriers. The work was funded in part by Wisdom Health and Genoscoper Laboratories, providers of the MyDogDNA™ (Europe) / Optimal Selection™ (United States) test.
Amelogenesis Imperfecta (AI) or enamel hypoplasia is a congenital disorder characterised by defects in enamel formation. Enamel is a hard, smooth substance that covers the crown of the tooth providing protection to the underlying dentine. Normal enamel functions to strengthen the teeth, seal the teeth from bacteria, and prevent plaque from accumulating on the surface of the teeth. Enamel formation starts before the eruption of the first teeth and there will be no subsequent repair of the enamel after eruption. The clinical signs of amelogenesis imperfecta include enamel thinning and roughening and discoloration of the teeth. The enamel of affected teeth erodes more rapidly over the years than normal enamel.
As part of the study leading to the research discovery, almost 400 Parson Russell Terriers were screened indicating a recessive mode of inheritance. The breed carrier frequency was 9 % for the discovered mutation. The detailed results of the study are published in a peer-reviewed scientific article that can be found HERE!
This gene discovery has enabled the development of a genetic test for Amelogenesis Imperfecta in Parson Russell Terriers to allow management of the condition in breeding programs, so that healthy carrier dogs can be kept in the gene pool while avoiding affected offspring.
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