LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

Stefano Carlo Previtali, Alberto Andrea Zambon

Research output: Contribution to journalArticlepeer-review

Abstract

Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211. The disease is predominantly characterized by progressive muscular dystrophy affecting patient motor function and reducing life expectancy. However, LAMA2-RD also comprises a developmentally-associated dysmyelinating neuropathy that contributes to the disease progression, in addition to brain abnormalities; the latter often underappreciated. In this brief review, we present data supporting the impact of peripheral neuropathy in the LAMA2-RD phenotype, including both mouse models and human studies. We discuss the molecular mechanisms underlying nerve abnormalities and involved in the laminin-211 pathway, which affects axon sorting, ensheathing and myelination. We conclude with some final considerations of consequences on nerve regeneration and potential therapeutic strategies.

Original languageEnglish
Article number60
JournalFrontiers in Molecular Neuroscience
Volume13
DOIs
Publication statusPublished - Apr 23 2020

Keywords

  • human
  • LAMA2 gene
  • laminin
  • mousemodel
  • neuropathy

ASJC Scopus subject areas

  • Molecular Biology
  • Cellular and Molecular Neuroscience

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