January 31, 2017Nature CommunicationsOpen Access

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

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Why the study?

Does the ACTN3 R577X polymorphism modify the clinical phenotype in patients with Duchenne muscular dystrophy?

Population

Young, ambulant patients with Duchenne muscular dystrophy (DMD) and a double knockout mouse model

Comparison

ACTN3 R577X polymorphism (α-actinin-3 deficiency) vs Patients/mice without the ACTN3 R577X polymorphism

Design

Preclinical

Authors

MHMarshall W. HogarthChildren's National PHPeter J. HouwelingRoyal Children's Hospital KTKristen C. ThomasNYU Langone Health

Discussion

Member takes

Implication

ACTN3 R577X may worsen DMD function; hypothesis-generating for trial stratification and requires validation.

Structured PICO

Does the ACTN3 R577X polymorphism modify the clinical phenotype in patients with Duchenne muscular dystrophy?

Population

Young, ambulant patients with Duchenne muscular dystrophy (DMD) and a double knockout mouse model

Intervention

ACTN3 R577X polymorphism (α-actinin-3 deficiency)

Comparator

Patients/mice without the ACTN3 R577X polymorphism (implied)

Outcome

Muscle strength and 10 m walk test timesurrogate

The ACTN3 R577X genotype acts as a genetic modifier of the clinical phenotype in Duchenne muscular dystrophy, which may confound clinical trial results if not accounted for.

Cite This Study

Hogarth et al. (2017) studied this question.

synapsesocial.com/papers/6a758aa3e42ca79ec1e72581 https://doi.org/10.1038/ncomms14143

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Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider