Publication

Gene expression analysis on a single cell level in Purkinje cells of Huntington's disease transgenic mice

2012
Journal Articles

Abstract

Ataxia is a clinical feature of most polyglutamine disorders. Cerebellar neurodegeneration of Purkinje cells (PCs) in Huntington's Disease (HD) brain was described in the 1980s. PC death in the R6/2 transgenic model for HD was published by Turmaine et al. [27]. So far, PCs have not been examined on a single cell level. In order to begin to understand PC dysfunction and degeneration in HD we performed a gene expression study on laser-dissected PC based on a DNA microarray screening and quantitative real time PCR (Q-PCR). We demonstrate downregulation of the retinoid acid receptor-related orphan receptor alpha (ROR alpha) mRNA and ROR alpha-mediated mRNAs, also seen by immunofluorescent staining. As ROR alpha and ROR alpha-dependent transcriptional dysregulation is not only found in the R6/2 model for HD but also in a model for spinocerebellar ataxia type 1 (SCA1) (Serra et al. [24]) the data suggest common pathogenic mechanisms for both polyglutamine diseases. (c) 2012 Published by Elsevier Ireland Ltd.

Official source

https://infoscience.epfl.ch/entities/publication/f4379ffa-4f88-4ea7-a7fd-14cc575b58a5

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2012
Journal Articles

Abstract

Official source

https://infoscience.epfl.ch/entities/publication/f4379ffa-4f88-4ea7-a7fd-14cc575b58a5

About this result

Related concepts (32)

Spinocerebellar ataxia

Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene.

Gene expression

Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product that enables it to produce end products, proteins or non-coding RNA, and ultimately affect a phenotype. These products are often proteins, but in non-protein-coding genes such as transfer RNA (tRNA) and small nuclear RNA (snRNA), the product is a functional non-coding RNA.

Gene expression profiling

In the field of molecular biology, gene expression profiling is the measurement of the activity (the expression) of thousands of genes at once, to create a global picture of cellular function. These profiles can, for example, distinguish between cells that are actively dividing, or show how the cells react to a particular treatment. Many experiments of this sort measure an entire genome simultaneously, that is, every gene present in a particular cell. Several transcriptomics technologies can be used to generate the necessary data to analyse.

Related publications (32)

Gene expression analysis on a single cell level in Purkinje cells of Huntington's disease transgenic mice

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