May 28, 2013BrainOpen Access

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

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Population

Mouse model in which Neb exon 55 is deleted (Neb) to replicate a founder mutation seen frequently in…

Comparison

Deletion of Neb exon 55 and administration of a… vs Untreated control muscle

Design

Preclinical

Authors

COCoen A. C. OttenheijmHeart Failure & Transplant DBDanielle BuckUniversity of Arizona JWJosine M. de WinterTissue Regeneration Systems (United States)

Discussion

Member takes

Implication

Hypothesis-generating for calcium sensitization in nemaline myopathy; leaves open translation from this mouse model to patients.

Structured PICO

Population

Mouse model in which Neb exon 55 is deleted (Neb(ΔExon55)) to replicate a founder mutation seen frequently in patients with nemaline myopathy with Ashkenazi Jewish heritage

Intervention

Deletion of Neb exon 55 (genetic model) and administration of a novel drug that facilitates calcium binding to the thin filament

Comparator

Untreated control muscle

Outcome

Muscle weakness, thin filament length, maximal force generating capacity, and calcium sensitivity of force generationsurrogate

The Neb(ΔExon55) mouse model recapitulates nemaline myopathy features, demonstrating severe muscle weakness caused by thin filament dysfunction, which can be partially mitigated by a calcium-sensitizing drug.

Cite This Study

Ottenheijm et al. (2013) studied this question.

synapsesocial.com/papers/6a75747ef2cd31a1fadc12fa https://doi.org/10.1093/brain/awt113

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Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider