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Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease with a spectrum of phenotypes. SCA10 is caused by a pentanucleotide repeat expansion of the ATTCT motif within intron 9 of ATAXIN 10 (ATXN10). Patients present with cerebellar ataxia; however, a subset also dev...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899997/ https://www.ncbi.nlm.nih.gov/pubmed/24533179 http://dx.doi.org/10.3390/genes3030481 |
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author | McFarland, Karen N. Ashizawa, Tetsuo |
author_facet | McFarland, Karen N. Ashizawa, Tetsuo |
author_sort | McFarland, Karen N. |
collection | PubMed |
description | Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease with a spectrum of phenotypes. SCA10 is caused by a pentanucleotide repeat expansion of the ATTCT motif within intron 9 of ATAXIN 10 (ATXN10). Patients present with cerebellar ataxia; however, a subset also develops epileptic seizures which significantly contribute to the morbidity and mortality of the disease. Past research from our lab has demonstrated that epileptic SCA10 patients predominantly originate from or have ancestral ties to Mexico. In addition, a large proportion of epileptic SCA10 patients carry repeat interruptions within their SCA10 expansion. This paper outlines the variability in SCA10 phenotypes and our attempts to model these phenotypes using transgenic mouse models and highlights the benefits of using a transgenic model organism to understand the pathological mechanisms of a human disease. |
format | Online Article Text |
id | pubmed-3899997 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-38999972014-02-13 Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder McFarland, Karen N. Ashizawa, Tetsuo Genes (Basel) Review Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease with a spectrum of phenotypes. SCA10 is caused by a pentanucleotide repeat expansion of the ATTCT motif within intron 9 of ATAXIN 10 (ATXN10). Patients present with cerebellar ataxia; however, a subset also develops epileptic seizures which significantly contribute to the morbidity and mortality of the disease. Past research from our lab has demonstrated that epileptic SCA10 patients predominantly originate from or have ancestral ties to Mexico. In addition, a large proportion of epileptic SCA10 patients carry repeat interruptions within their SCA10 expansion. This paper outlines the variability in SCA10 phenotypes and our attempts to model these phenotypes using transgenic mouse models and highlights the benefits of using a transgenic model organism to understand the pathological mechanisms of a human disease. MDPI 2012-07-30 /pmc/articles/PMC3899997/ /pubmed/24533179 http://dx.doi.org/10.3390/genes3030481 Text en © 2012 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0/ This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
spellingShingle | Review McFarland, Karen N. Ashizawa, Tetsuo Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title | Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title_full | Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title_fullStr | Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title_full_unstemmed | Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title_short | Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder |
title_sort | transgenic models of spinocerebellar ataxia type 10: modeling a repeat expansion disorder |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899997/ https://www.ncbi.nlm.nih.gov/pubmed/24533179 http://dx.doi.org/10.3390/genes3030481 |
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