Next Article in Journal
A Model of Evolution of Development Based on Germline Penetration of New “No-Junk” DNA
Next Article in Special Issue
Assessment of Fecundity and Germ Line Transmission in Two Transgenic Pig Lines Produced by Sleeping Beauty Transposition
Previous Article in Journal
Beyond Junk-Variable Tandem Repeats as Facilitators of Rapid Evolution of Regulatory and Coding Sequences
Article Menu

Export Article

Open AccessReview
Genes 2012, 3(3), 481-491; doi:10.3390/genes3030481

Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder

Department of Neurology, The McKnight Brain Institute, University of Florida, Gainesville, FL 32610, USA
*
Author to whom correspondence should be addressed.
Received: 2 July 2012 / Revised: 24 July 2012 / Accepted: 26 July 2012 / Published: 30 July 2012
(This article belongs to the Special Issue Transgenic Technology: Benefits or Dangers?)
View Full-Text   |   Download PDF [119 KB, uploaded 30 July 2012]

Abstract

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.
Keywords: RNA-mediated gain-of-function; genotype-phenotype correlations; autosomal dominant cerebellar ataxia; repeat expansion RNA-mediated gain-of-function; genotype-phenotype correlations; autosomal dominant cerebellar ataxia; repeat expansion
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

McFarland, K.N.; Ashizawa, T. Transgenic Models of Spinocerebellar Ataxia Type 10: Modeling a Repeat Expansion Disorder. Genes 2012, 3, 481-491.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Genes EISSN 2073-4425 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top