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January 28, 2020Skeletal MuscleOpen Access

Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function

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Why the study?

Loss of nebulin causes nemaline myopathy with severe muscle weakness and sarcomeric defects, and there is no known cure.

Does AAV vector therapy introducing nebulin's Z-disk region improve muscle structure and function in a nebulin-deficient mouse model?

Population

Nebulin-deficient (Neb cKO) and control mice

Comparison

AAV-mediated introduction of nebulin's Z-disk region vs vehicle

Design

Preclinical animal study

Authors

FLFrank LiNorthwestern UniversityJKJustin KolbUniversity of ArizonaJCJulie M. CrudeleEmory University

Discussion

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Implication

May offer partial rescue in nebulin-deficient models but induces toxicity in controls; leaves open optimized AAV strategies for nemaline myopathy.

Structured PICO

Does AAV vector therapy introducing nebulin's Z-disk region improve muscle structure and function in a nebulin-deficient mouse model?

P
Population
Nebulin-deficient mouse model (Neb cKO) and control mice
I
Intervention
Adeno-associated viral (AAV) vector therapy introducing nebulin's Z-disk region via intramuscular injection
C
Comparator
Vehicle treatment
O
Outcome
Sarcomeric structure and muscle function (force and fatigue resistance)surrogate

AAV-mediated delivery of a nebulin Z-disk fragment provides limited functional and structural benefits in a mouse model of nemaline myopathy, but causes toxicity in healthy controls.

Cite This Study

Li et al. (2020) studied this question.

synapsesocial.com/papers/6a1dff98c238e2f4583521cdhttps://doi.org/10.1186/s13395-019-0219-9
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Deleting nebulin's C-terminus reveals its importance to sarcomeric structure and function and is sufficient to invoke nemaline myopathy2019 · 15 citations
  2. 2Nebulin stiffens the thin filament and augments cross-bridge interaction in skeletal muscle2018 · 56 citations
  3. 3Nebulin, a major player in muscle health and disease2010 · 89 citations
  4. 4Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy2018 · 26 citations
  5. 5Nebulin as a giant actin‐binding template protein in skeletal muscle sarcomere Interaction of actin and cloned human nebulin fragments1991 · 89 citations