What does this research mean for the field?

Absence of the RYR1 Ca2+ release channel alters the expression of major signaling pathways and muscle regulatory factors in embryonic skeletal muscle, demonstrating a non-contractile role for RYR1 in muscle organ development. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

February 1, 2016Scientific ReportsOpen Access

Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca2+ release channel

Q: What is the clinical evidence from this study?

Study design: Other. Population: RYR1 deficiency (dyspedic mouse model) (n=8). Intervention: RYR1 knockout (dyspedic mutation) vs. Heterozygous control littermates. Primary outcome: Differentially expressed genes (DEGs) in limb skeletal muscle.

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Key result

Absence of RYR1 in mouse embryos alters 318 skeletal muscle genes, affecting muscle development.

Population

RyR1-null mouse model (dyspedic) fetuses at day E18.5 (n=4 dysp and n=4 control mouse fetuses)

Comparison

Absence of functional RYR1 vs Heterozygous control littermates

Design

Preclinical

Authors

DFDilyana FilipovaFederal Highway and Transport Research Institute AWAnna M. WalterFriedrich-Alexander-Universität Erlangen-Nürnberg JGJohn Antonydas GasparVrije Universiteit Brussel

Discussion

Member takes

Implication

Should not change clinical practice in RYR1 disorders; hypothesis-generating for Ca2+-dependent muscle development.

Structured PICO

Population

8 mouse fetuses (4 homozygous dyspedic and 4 heterozygous controls) at embryonic day 18.5 were analyzed to determine the transcriptomic effects of lacking functional RYR1.

Exposure

Absence of functional RYR1 (homozygous dyspedic mutation)

Comparator

Heterozygous control littermates

Outcome

Differentially expressed genes in fore- and hind limb skeletal musclesurrogate

The absence of RYR1-mediated Ca2+ signaling during embryogenesis leads to significant transcriptional dysregulation of genes involved in skeletal muscle development and structure.

Limitations

Data refer only to embryonic muscle at a single developmental stage (E18.5)
Cannot fully separate the effects of ablation of mechanotransduction from RyR1-dependent Ca2+ signaling

Cite This Study

Filipova et al. (2016) studied RYR1 deficiency (dyspedic mouse model) (n=8). RYR1 knockout (dyspedic mutation) vs. Heterozygous control littermates was evaluated on Differentially expressed genes (DEGs) in limb skeletal muscle. Absence of the RYR1 Ca2+ release channel in dyspedic mouse embryos resulted in 318 differentially expressed genes in skeletal muscle, affecting major signaling pathways and muscle development.

synapsesocial.com/papers/6aa513b3d2779b1afb94f0fa https://doi.org/10.1038/srep20050

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February 1, 2016Scientific ReportsOpen Access

Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca2+ release channel

View Full Paper

Ask AI

Bookmark

Key result

Absence of RYR1 in mouse embryos alters 318 skeletal muscle genes, affecting muscle development.

Population

RyR1-null mouse model (dyspedic) fetuses at day E18.5 (n=4 dysp and n=4 control mouse fetuses)

Comparison

Absence of functional RYR1 vs Heterozygous control littermates

Design

Preclinical

Authors

DFDilyana FilipovaFederal Highway and Transport Research Institute AWAnna M. WalterFriedrich-Alexander-Universität Erlangen-Nürnberg JGJohn Antonydas GasparVrije Universiteit Brussel

Discussion

Member takes

Implication

Should not change clinical practice in RYR1 disorders; hypothesis-generating for Ca2+-dependent muscle development.

Structured PICO

Population

8 mouse fetuses (4 homozygous dyspedic and 4 heterozygous controls) at embryonic day 18.5 were analyzed to determine the transcriptomic effects of lacking functional RYR1.

Exposure

Absence of functional RYR1 (homozygous dyspedic mutation)

Comparator

Heterozygous control littermates

Outcome

Differentially expressed genes in fore- and hind limb skeletal musclesurrogate

The absence of RYR1-mediated Ca2+ signaling during embryogenesis leads to significant transcriptional dysregulation of genes involved in skeletal muscle development and structure.

Limitations

Data refer only to embryonic muscle at a single developmental stage (E18.5)
Cannot fully separate the effects of ablation of mechanotransduction from RyR1-dependent Ca2+ signaling

Cite This Study

synapsesocial.com/papers/6aa513b3d2779b1afb94f0fa https://doi.org/10.1038/srep20050

Also Consider

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

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