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Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Johanna Ranta-Aho1,2, Kevin J Felice3, Per Harald Jonson1,2

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Alpha-actinin-2 aggregation causes dominant actininopathies, a muscle disorder. Protein-extending frameshift variants in the ACTN2 gene are pathogenic. Further research is needed for other mechanisms.

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Area of Science:

  • Molecular biology
  • Genetics
  • Cell biology

Background:

  • Actininopathies are rare, inherited distal myopathies.
  • ACTN2 gene variants cause these disorders, affecting alpha-actinin-2 protein function.
  • Genotype-phenotype correlations remain unclear for many ACTN2 variants.

Purpose of the Study:

  • To characterize the pathomechanisms of actininopathies.
  • To investigate the role of ACTN2 variants in disease development.
  • To establish genotype-phenotype correlations for ACTN2-related diseases.

Main Methods:

  • Functional characterization of ACTN2 variants using a C2C12 cell model.
  • Assessment of frameshift and missense variants linked to dominant and recessive actininopathies.
  • Analysis of clinical data from patients with ACTN2 variants.

Main Results:

  • Recessive missense variants did not cause alpha-actinin-2 aggregation in cells.
  • Dominant frameshift variants, leading to protein extension, formed alpha-actinin-2 aggregates.
  • Alpha-actinin-2 aggregation was observed in a subset of actininopathy cases.

Conclusions:

  • Alpha-actinin-2 aggregation is a disease mechanism in dominant actininopathies.
  • Protein-extending frameshift variants in ACTN2 should be classified as pathogenic.
  • Alternative methods are needed to explore other molecular mechanisms in actininopathies.