What is the clinical evidence from this study?

Study design: Observational. Population: Autosomal dominant recurrent rhabdomyolysis (n=20). Intervention: ATP2A2 c.1583G>A (p.R528Q) variant vs. Wild-type (unaffected controls). Primary outcome: Time constant decay of Ca2+ reuptake in myotubes (seconds) (p=<0.005).

February 19, 2025BrainOpen Access

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

Q: What are the key findings of this study?

A novel heterozygous missense variant in the ATP2A2 gene (c.1583G>A, p.R528Q) caused autosomal dominant recurrent rhabdomyolysis by significantly slowing SERCA-mediated Ca2+ reuptake in muscle cells.

Q: What does this research mean for the field?

A novel heterozygous missense variant in the ATP2A2 gene (c.1583G>A, p.R528Q) causes autosomal dominant recurrent rhabdomyolysis by significantly slowing SERCA-mediated Ca2+ reuptake in muscle cells. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

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Key result

Novel ATP2A2 variant linked to recurrent rhabdomyolysis by slowing SERCA-mediated Ca2+ reuptake ~2.5-fold.

P<0.005
n=20

Why the study?

Recurrent rhabdomyolysis is often associated with genetic defects, but heterozygous loss-of-function variants in ATP2A2 had not previously been associated with rhabdomyolysis.

Design

Genetic and functional laboratory study

Authors

SMSivasankar Malaichamy RIRomane Idoux KPKiran Polavarapu

Discussion

Member takes

Overview

May warrant ATP2A2 testing in unexplained recurrent rhabdomyolysis; leaves open validation in larger cohorts.

Study Design

Type

Observational (n=20)

Multicenter

Yes

PICO

Population

Autosomal dominant recurrent rhabdomyolysis (n=20)

Intervention / Comparator

ATP2A2 c.1583G>A (p.R528Q) variant vs Wild-type (unaffected controls)

Primary Outcome

Time constant decay of Ca2+ reuptake in myotubes (seconds), p=<0.005

Main Result

Absolute Event Rate: 5.02% vs 2.03%

p-value: p=<0.005

Cite This Study

Malaichamy et al. (2025) conducted an observational in Autosomal dominant recurrent rhabdomyolysis (n=20). ATP2A2 c.1583G>A (p.R528Q) variant vs. Wild-type (unaffected controls) was evaluated on Time constant decay of Ca2+ reuptake in myotubes (seconds) (p=<0.005). A novel heterozygous missense variant in the ATP2A2 gene (c.1583G>A, p.R528Q) caused autosomal dominant recurrent rhabdomyolysis by significantly slowing SERCA-mediated Ca2+ reuptake in muscle cells.

synapsesocial.com/papers/6a16b3cfc23c548e2a7b7d15 https://doi.org/10.1093/brain/awaf067

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February 19, 2025BrainOpen Access

Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle

View Full Paper

Ask AI

Bookmark

Key result

Novel ATP2A2 variant linked to recurrent rhabdomyolysis by slowing SERCA-mediated Ca2+ reuptake ~2.5-fold.

P<0.005
n=20

Why the study?

Recurrent rhabdomyolysis is often associated with genetic defects, but heterozygous loss-of-function variants in ATP2A2 had not previously been associated with rhabdomyolysis.

Design

Genetic and functional laboratory study

Authors

SMSivasankar Malaichamy RIRomane Idoux KPKiran Polavarapu

Discussion

Member takes

Overview

May warrant ATP2A2 testing in unexplained recurrent rhabdomyolysis; leaves open validation in larger cohorts.

Study Design

Type

Observational (n=20)

Multicenter

Yes

PICO

Population

Autosomal dominant recurrent rhabdomyolysis (n=20)

Intervention / Comparator

ATP2A2 c.1583G>A (p.R528Q) variant vs Wild-type (unaffected controls)

Primary Outcome

Time constant decay of Ca2+ reuptake in myotubes (seconds), p=<0.005

Main Result

Absolute Event Rate: 5.02% vs 2.03%

p-value: p=<0.005

Cite This Study

synapsesocial.com/papers/6a16b3cfc23c548e2a7b7d15 https://doi.org/10.1093/brain/awaf067

Also Consider

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