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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 2021 review connects FKRP biology with experimental small-molecule, gene, and cell approaches; it is background reading, not a current treatment guide.

Main findings

  • FKRP is a ribitol-5-phosphate transferase involved in functional alpha-dystroglycan glycosylation; associated disease spans congenital and limb-girdle presentations.
  • The review describes animal and human-cell models and experimental approaches reporting changes in glycosylation, muscle pathology, or function.
  • It discusses translation challenges, including model limitations and immune responses to gene delivery.

Practical relevance

  • Provides biological context for reading individual studies and the site's separately dated trial records.

Limitations and cautions

  • This is a narrative review rather than a systematic review with predefined inclusion criteria.
  • Experimental improvements do not establish safety or clinical benefit in people.
  • Statements about active trials describe the publication period and must not be treated as current recruitment or treatment status.

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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

A genetic screening study identifying FKRP-related LGMD in two North American referral cohorts.