RNA-based disorders of muscle and brain

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The RNA-based disorders of muscle and brain include myotonic dystrophy type 1 and type 2 (dystrophia myotonica, DM) and fragile X-associated tremor/ataxia syndrome (FXTAS). These disorders reflect an emerging concept in the pathogenesis of genetic disease, namely, that an expanded repeat element within a noncoding portion of an RNA transcript can be directly responsible for a disease phenotype. DM is an autosomal-dominant disorder and the most common form of muscular dystrophy in adults. The DM protein kinase gene (DMPK) and the zinc-finger protein 9 gene (ZNF9) are responsible for DM type1 and DM type 2 respectively. The discovery of the second gene (ZNF9) on a separate chromosome from the DMPK gene, which gives rise to many of the same clinical features, considerably strengthened the argument for an RNA-based mechanism for DM pathogenesis. FXTAS is caused by an RNA-based pathogenesis due to an expanded (noncoding) trinucleotide repeat in the fragile X mental retardation 1 (FMR1) gene. Abnormal expression of the fragile X mental retardation 1 (FMR1) gene leads to both the neurodegenerative FXTAS and fragile X syndrome. FXTAS is a movement disorder that affects some carriers of premutation alleles of the FMR1 gene. The disorder generally presents with progressive intention tremor and/or gait ataxia and Parkinsonism.

Original languageEnglish (US)
Title of host publicationNeurobiology of Disease
PublisherElsevier Inc.
Pages125-133
Number of pages9
ISBN (Print)9780120885923
DOIs
StatePublished - 2007

Fingerprint

Myotonic Dystrophy
Brain Diseases
Muscular Diseases
RNA
Intellectual Disability
Genes
Zinc Fingers
Gait Ataxia
Trinucleotide Repeat Expansion
Fragile X Syndrome
Untranslated RNA
Inborn Genetic Diseases
Muscular Dystrophies
Movement Disorders
Genetic Association Studies
Parkinsonian Disorders
Tremor
Protein Kinases
Proteins
Chromosomes

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)

Cite this

Hagerman, P. J. (2007). RNA-based disorders of muscle and brain. In Neurobiology of Disease (pp. 125-133). Elsevier Inc.. https://doi.org/10.1016/B978-012088592-3/50013-X

RNA-based disorders of muscle and brain. / Hagerman, Paul J.

Neurobiology of Disease. Elsevier Inc., 2007. p. 125-133.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hagerman, Paul J. / RNA-based disorders of muscle and brain. Neurobiology of Disease. Elsevier Inc., 2007. pp. 125-133
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