RNA Metabolism in Neurodegenerative Diseases

  • Rita Sattler
  • Christopher J. Donnelly

Part of the Advances in Neurobiology book series (NEUROBIOL, volume 20)

Table of contents

  1. Front Matter
    Pages i-xx
  2. Mark T. W. Ebbert, Rebecca J. Lank, Veronique V. Belzil
    Pages 1-29
  3. Ravindra N. Singh, Natalia N. Singh
    Pages 31-61
  4. Ileana Lorenzini, Stephen Moore, Rita Sattler
    Pages 63-83
  5. Ashley Boehringer, Robert Bowser
    Pages 85-101
  6. Kaitlin Weskamp, Sami J. Barmada
    Pages 103-142
  7. Phillip L. Price, Dmytro Morderer, Wilfried Rossoll
    Pages 143-171
  8. Nikita Fernandes, Nichole Eshleman, J. Ross Buchan
    Pages 173-212
  9. Chaitali Misra, Feikai Lin, Auinash Kalsotra
    Pages 213-238
  10. Marc Shenouda, Ashley B. Zhang, Anna Weichert, Janice Robertson
    Pages 239-263
  11. Back Matter
    Pages 303-310

About this book


It has become evident over the last years that abnormalities in RNA processing play a fundamental part in the pathogenesis of neurodegenerative diseases. Cellular viability depends on proper regulation of RNA metabolism and subsequent protein synthesis, which requires the interplay of many processes including transcription, pre‐mRNA splicing, mRNA editing as well as mRNA stability, transport and translation. Dysfunction in any of these processes, often caused by mutations in the coding and non‐coding RNAs, can be very destructive to the cellular environment and consequently impair neural viability. The result of this RNA toxicity can lead to a toxic gain of function or a loss of function, depending on the nature of the mutation. For example, in repeat expansion disorders, such as the newly discovered hexanucleotide repeat expansion in theC9orf72 gene found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), a toxic gain of function leads to the formation of RNA foci and the sequestration of RNA binding proteins (RBPs). This in return leads to a loss of function of those RBPs, which is hypothesized to play a significant part in the disease progression of ALS and FTD. Other toxicities arising from repeat expansions are the formation of RNA foci, bi‐directional transcription and production of repeat associated non‐ATG (RAN) translation products.

This book will touch upon most of these disease mechanisms triggered by aberrant RNA metabolism and will therefore provide a broad perspective of the role of RNA processing and its dysfunction in a variety of neurodegenerative disorders, including ALS, FTD, Alzheimer’s disease, Huntington’s disease, spinal muscular atrophy, myotonic dystrophy and ataxias. The proposed authors are leading scientists in the field and are expected to not only discuss their own work, but to be inclusive of historic as well as late breaking discoveries. The compiled chapters will therefore provide a unique collection of novel studies and hypotheses aimed to describe the consequences of altered RNA processing events and its newest molecular players and pathways.


RNA metabolism RNA toxicity neurodegeneration RNA processing amyotrophic lateral sclerosis (ALS)

Editors and affiliations

  • Rita Sattler
    • 1
  • Christopher J. Donnelly
    • 2
  1. 1.Department of Neurobiology and Neurology, Dignityhealth St. Joseph’s HospitalBarrow Neurological InstitutePhoenixUSA
  2. 2.Department of NeurobiologyUniversity of PittsburghPittsburghUSA

Bibliographic information

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