Deregulation of RNA metabolism in microsatellite expansion diseases

Chaitali Misra; Feikai Lin; Auinash Kalsotra

doi:10.1007/978-3-319-89689-2_8

Deregulation of RNA metabolism in microsatellite expansion diseases

Chaitali Misra, Feikai Lin, Auinash Kalsotra

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy—a trinucleotide repeat expansion disease—due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies.

Original language	English (US)
Title of host publication	Advances in Neurobiology
Publisher	Springer
Pages	213-238
Number of pages	26
DOIs	https://doi.org/10.1007/978-3-319-89689-2_8
State	Published - 2018

Publication series

Name	Advances in Neurobiology
Volume	20
ISSN (Print)	2190-5215

Keywords

Alternative splicing and polyadenylation
Microsatellite repeat expansions
Post-transcriptional gene regulation
RNA toxicity
RNA-binding proteins

ASJC Scopus subject areas

Biochemistry
Neurology
Developmental Neuroscience
Cellular and Molecular Neuroscience

Online availability

10.1007/978-3-319-89689-2_8

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T1 - Deregulation of RNA metabolism in microsatellite expansion diseases

AU - Misra, Chaitali

AU - Lin, Feikai

AU - Kalsotra, Auinash

N1 - Publisher Copyright: © Springer International Publishing AG, part of Springer Nature 2018.

PY - 2018

Y1 - 2018

N2 - RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy—a trinucleotide repeat expansion disease—due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies.

AB - RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy—a trinucleotide repeat expansion disease—due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies.

KW - Alternative splicing and polyadenylation

KW - Microsatellite repeat expansions

KW - Post-transcriptional gene regulation

KW - RNA toxicity

KW - RNA-binding proteins

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ER -

Deregulation of RNA metabolism in microsatellite expansion diseases

Abstract

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