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Evidence Summary

Fukutin-Related Protein: From Pathology to Treatments

Review article mapping FKRP biology, disease mechanisms, model systems, and the treatment approaches that were emerging by 2021.

reviewTherapy DevelopmentGeneticsGeneral

Citation: Ortiz-Cordero C, Azzag K, Perlingeiro RCR. Fukutin-Related Protein: From Pathology to Treatments. Trends Cell Biol. 2021;31(3):197-210.

Key Takeaway

This review is the quickest source for understanding how FKRP biology connects to therapeutic directions such as small molecules, gene therapy, and cell therapy.

Main findings

  • FKRP acts as a glycosyltransferase needed for functional alpha-dystroglycan glycosylation and disease severity spans congenital and later-onset muscular dystrophy phenotypes.
  • The review pulls together model-system work and preclinical studies showing that several treatment strategies can improve glycosylation and muscle phenotype in experimental settings.
  • It also explains why FKRP remains therapeutically attractive despite wide clinical variability across patients.

Practical relevance

  • Useful as a starting point for families, clinicians, and researchers who need a shared conceptual map before moving into narrower phenotype or trial papers.
  • Helps frame why gene therapy and other modality-specific trial records matter without overselling preclinical work as established care.

Limitations and cautions

  • This is a narrative review rather than a systematic review with predefined inclusion criteria.
  • It summarizes preclinical directions and early therapeutic rationale, not clinical efficacy in patients.
  • Treatment options and active trial status have evolved since publication, so trial pages need separate current-source checks.

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Glossary

Alpha-dystroglycan

A cell-surface protein that needs proper glycosylation to help muscle and other tissues stay structurally stable.

Glossary

Dystroglycanopathy

A group of disorders caused by problems in alpha-dystroglycan glycosylation, including diseases linked to FKRP.

Paper Summary

LGMD2I in a North American population

Genotype-phenotype paper showing that FKRP-related LGMD can be present and clinically varied in North American cohorts, not only in founder populations from Northern Europe.