Hunden som modell för ärftlig retinopati hos människa
This literature review aims to evaluate the dog as a model organism for research concerning retinopathy, as well as gene therapy as a potential treatment. At least 256 genes and 300 mutations associated with hereditary retinopathy in humans have been identified. In canines, 28 such genes have been i...
| Autor principal: | |
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| Formato: | M2 |
| Lenguaje: | sueco Inglés |
| Publicado: |
SLU/Dept. of Animal Breeding and Genetics (until 231231)
2017
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| Materias: |
| _version_ | 1855571831098966016 |
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| author | Berger, Susanna |
| author_browse | Berger, Susanna |
| author_facet | Berger, Susanna |
| author_sort | Berger, Susanna |
| collection | Epsilon Archive for Student Projects |
| description | This literature review aims to evaluate the dog as a model organism for research concerning retinopathy, as well as gene therapy as a potential treatment. At least 256 genes and 300 mutations associated with hereditary retinopathy in humans have been identified. In canines, 28 such genes have been identified. Retinopathy has been observed to exhibitautosomal recessive-, autosomal dominant-, x-bound- and mitochondrial inheritance pattern. Besides different forms of heredity, retinopathies can differ in severity, age of onset and speed of progression. Rats and mice have long histories as model organisms for research in hereditary retinopathy. However, they are unsuited to certain research due to anatomical differences between their eyes and the eyes of humans. Two genetic bottlenecks, among other reasons com- pound to make the canine an ideal model animal for this purpose. The eye of a canine has anatomical similarities with a human one. Gene therapy is a possible treatment for genetic diseases. Studies on gene therapy in canines have shown promising results. Phase I and II trials on humans have also been performed with
promising results. |
| format | M2 |
| id | RepoSLU11223 |
| institution | Swedish University of Agricultural Sciences |
| language | swe Inglés |
| publishDate | 2017 |
| publishDateSort | 2017 |
| publisher | SLU/Dept. of Animal Breeding and Genetics (until 231231) |
| publisherStr | SLU/Dept. of Animal Breeding and Genetics (until 231231) |
| record_format | eprints |
| spelling | RepoSLU112232017-10-02T06:56:29Z Hunden som modell för ärftlig retinopati hos människa The canine as a model organism for hereditary retinopathy in humans Berger, Susanna retinopati Retinitis pigmentosa Leber congenital amaurosis hund modelldjur genterapi This literature review aims to evaluate the dog as a model organism for research concerning retinopathy, as well as gene therapy as a potential treatment. At least 256 genes and 300 mutations associated with hereditary retinopathy in humans have been identified. In canines, 28 such genes have been identified. Retinopathy has been observed to exhibitautosomal recessive-, autosomal dominant-, x-bound- and mitochondrial inheritance pattern. Besides different forms of heredity, retinopathies can differ in severity, age of onset and speed of progression. Rats and mice have long histories as model organisms for research in hereditary retinopathy. However, they are unsuited to certain research due to anatomical differences between their eyes and the eyes of humans. Two genetic bottlenecks, among other reasons com- pound to make the canine an ideal model animal for this purpose. The eye of a canine has anatomical similarities with a human one. Gene therapy is a possible treatment for genetic diseases. Studies on gene therapy in canines have shown promising results. Phase I and II trials on humans have also been performed with promising results. Denna litteraturstudie utvärderar hunden som ett modelldjur inom forskning för sjukdomar på näthinnan s.k. retinopatier samt genterapi som potentiell behandlingsmetod för dessa sjukdomar. Minst 256 gener och 300 mutationer har hos människa associerats med ärftliga retinopatier. Hos hunden har hittills 28 gener identifierad koppling till olika retinopatier. Retinopatier har observerats ha autosomal recessiv, autosomal dominant, X-bunden och mitokondriell nedärvning. Förutom olika nedärvningsformer kan retinopatier även uppkomma vid olika tidpunkter i individens liv och med olika långt sjukdomsförlopp. Råttor och möss har länge använts som modelldjur inom forskning för ärftliga ögonsjukdomar. De är dock mindre lämpade att använda i viss forskning på grund av anatomiska olikheter med människans ögon. Två genetiska flaskhalsar bidrar bland annat till att hunden är ett lämpligt modelldjur. Hundens öga har många anatomiska likheter med människans. Genterapi är en möjlig behandlingsform för genetiska sjukdomar. Genterapistudier på hund har genomförts med goda resultat. Fas I och II försök på männsika har också utförts även här med lovande resultat. SLU/Dept. of Animal Breeding and Genetics (until 231231) 2017 M2 swe eng https://stud.epsilon.slu.se/11223/ |
| spellingShingle | retinopati Retinitis pigmentosa Leber congenital amaurosis hund modelldjur genterapi Berger, Susanna Hunden som modell för ärftlig retinopati hos människa |
| title | Hunden som modell för ärftlig retinopati hos människa |
| title_full | Hunden som modell för ärftlig retinopati hos människa |
| title_fullStr | Hunden som modell för ärftlig retinopati hos människa |
| title_full_unstemmed | Hunden som modell för ärftlig retinopati hos människa |
| title_short | Hunden som modell för ärftlig retinopati hos människa |
| title_sort | hunden som modell för ärftlig retinopati hos människa |
| topic | retinopati Retinitis pigmentosa Leber congenital amaurosis hund modelldjur genterapi |