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Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

ABSTRACT: A new and exciting phase of muscle disease research has recently been entered. The application of next generation sequencing technology has spurred an unprecedented era of gene discovery for both myopathies and muscular dystrophies. Gene-based therapies for Duchenne muscular dystrophy have entered clinical trial, and several pathway-based therapies are doing so as well for a handful of muscle diseases. While many factors have aided the extraordinary developments in gene discovery and therapy development, the zebrafish model system has emerged as a vital tool in these advancements. In this review, we will highlight how the zebrafish has greatly aided in the identification of new muscle disease genes and in the recognition of novel therapeutic strategies. We will start with a general introduction to the zebrafish as a model, discuss the ways in which muscle disease can be modeled and analyzed in the fish, and conclude with observations from recent studies that highlight the power of the fish as a research tool for muscle disease.

SUBMITTER: Gibbs EM

PROVIDER: S-EPMC4017590 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

Gibbs Elizabeth M EM Horstick Eric J EJ Dowling James J JJ

The FEBS journal 20130725 17

A new and exciting phase of muscle disease research has recently been entered. The application of next generation sequencing technology has spurred an unprecedented era of gene discovery for both myopathies and muscular dystrophies. Gene-based therapies for Duchenne muscular dystrophy have entered clinical trial, and several pathway-based therapies are doing so as well for a handful of muscle diseases. While many factors have aided the extraordinary developments in gene discovery and therapy dev ...[more]

PMID: 23809187

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Project description:Muscular dystrophies and congenital myopathies arise from specific genetic mutations causing skeletal muscle weakness that reduces quality of life. Muscle health relies on resident muscle stem cells called satellite cells, which enable life-course muscle growth, maintenance, repair and regeneration. Such tuned plasticity gradually diminishes in muscle diseases, suggesting compromised satellite cell function. A central issue however, is whether the pathogenic mutation perturbs satellite cell function directly and/or indirectly via an increasingly hostile microenvironment as disease progresses. Here, we explore the effects on satellite cell function of pathogenic mutations in genes (myopathogenes) that associate with muscle disorders, to evaluate clinical and muscle pathological hallmarks that define dysfunctional satellite cells. We deploy transcriptomic analysis and comparison between muscular dystrophies and myopathies to determine the contribution of satellite cell dysfunction using literature, expression dynamics of myopathogenes and their response to the satellite cell regulator PAX7. Our multimodal approach extends current pathological classifications to define Satellite Cell-opathies: muscle disorders in which satellite cell dysfunction contributes to pathology. Primary Satellite Cell-opathies are conditions where mutations in a myopathogene directly affect satellite cell function, such as in Progressive Congenital Myopathy with Scoliosis (MYOSCO) and Carey-Fineman-Ziter Syndrome (CFZS). Primary satellite cell-opathies are generally characterised as being congenital with general hypotonia, and specific involvement of respiratory, trunk and facial muscles, although serum CK levels are usually within the normal range. Secondary Satellite Cell-opathies have mutations in myopathogenes that affect both satellite cells and muscle fibres. Such classification aids diagnosis and predicting probable disease course, as well as informing on treatment and therapeutic development.

Dataset Information

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

Publications

Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.

Similar Datasets

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