LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

Overview

Journal Front Mol Neurosci

Specialty Molecular Biology

Date 2020 May 12

PMID 32390798

Citations 12

Authors

Stefano Carlo Previtali

Alberto Andrea Zambon

Affiliations

Soon will be listed here.

Abstract

Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the 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.

Citing Articles

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Nerve pathology is prevented by linker proteins in mouse models for -related muscular dystrophy.

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