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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs

John B Rudell¹, Ricardo A Maselli², Vladimir Yarov-Yarovoy¹

¹Department of Physiology and Membrane Biology, University of California Davis, Davis, CA, USA.

Human Molecular Genetics

|April 18, 2019

Summary

This summary is machine-generated.

A mutation in agrin (V1727F) impairs neuromuscular junction (NMJ) formation by reducing secretion and LRP4 binding of neural agrin, causing congenital myasthenic syndrome (CMS). Other agrin functions remain unaffected.

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Area of Science:

Neuroscience
Molecular Biology
Genetics

Background:

Agrin is a crucial extracellular matrix protein regulating neuromuscular junction (NMJ) formation.
Distinct agrin isoforms (y+z+ and y-z-) exhibit varied tissue distribution and functions.
A V1727F mutation in the LG2 domain of agrin is linked to severe congenital myasthenic syndrome (CMS).

Purpose of the Study:

To elucidate the pathogenic mechanisms of the agrin V1727F mutation.
To understand how this mutation leads to profound NMJ dysfunction in CMS.

Main Methods:

Heterologous cell expression of agrin variants.
Assessment of agrin secretion and binding affinities (heparin, LRP4).
Molecular modeling of the agrin LG2 domain.

Main Results:

The V1727F mutation significantly reduces secretion of y+z+ agrin but not y-z- agrin.
Impaired binding of y+z+ agrin to heparin and LRP4 coreceptor.
Molecular modeling indicates disruption of the y splice insert by the V1727F mutation.

Conclusions:

The V1727F mutation causes severe CMS by disrupting neural y+z+ agrin secretion and receptor binding.
Defects in heparan sulfate proteoglycan and LRP4 binding impair muscle-specific kinase signaling.
Function of y-z- agrin in other tissues appears unaffected, suggesting isoform-specific pathogenicity.