Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 Mar 21;13(6):556.
doi: 10.3390/cells13060556.

MuSK Myasthenia Gravis-Potential Pathomechanisms and Treatment Directed against Specific Targets

Edyta Dziadkowiak  1 , Dagmara Baczyńska  2 , Marta Waliszewska-Prosół  1
Affiliations
Review

MuSK Myasthenia Gravis-Potential Pathomechanisms and Treatment Directed against Specific Targets

Edyta Dziadkowiak et al. Cells. .

Abstract

Myasthenia gravis (MG) is an autoimmune disease in which autoantibodies target structures within the neuromuscular junction, affecting neuromuscular transmission. Muscle-specific tyrosine kinase receptor-associated MG (MuSK-MG) is a rare, often more severe, subtype of the disease with different pathogenesis and specific clinical features. It is characterized by a more severe clinical course, more frequent complications, and often inadequate response to treatment. Here, we review the current state of knowledge about potential pathomechanisms of the MuSK-MG and their therapeutic implications as well as ongoing research in this field, with reference to key points of immune-mediated processes involved in the background of myasthenia gravis.

Keywords: MuSK; autoimmune; myasthenia gravis; neuromuscular disease.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
Flow chart of study selection.
Figure 2
Figure 2
Developing NMJ: The key proteins in NMJ formation include a neuronally derived heparan-sulfate proteo-glycan, agrin, and three muscle proteins: downstream of kinase-7 (Dok7), low-density lipoprotein receptor-related protein-4 (LRP4), and rapsyn [13,14]. The low-density lipoprotein receptor-related protein-4 (LRP4) serves as a cis-acting (in muscle) transmembrane ligand for MuSK; agrin acts as an allosteric regulator of LRP4 interaction with MuSK; downstream of kinase-7 (Dok7) functions as a cytoplasmic activator of MuSK, whereas rapsyn binds directly to AChR to facilitate its clustering (based on [9], own modification).
Figure 3
Figure 3
MuSK Structure (modified from [16]).
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Fichtner M.L., Jiang R., Bourke A., Nowak R.J., O’Connor K.C. Autoimmune Pathology in Myasthenia Gravis Disease Subtypes Is Governed by Divergent Mechanisms of Immunopathology. Front. Immunol. 2020;11:776. doi: 10.3389/fimmu.2020.00776. - DOI - PMC - PubMed
    1. Dresser L., Wlodarski R., Rezania K., Soliven B. Myasthenia Gravis: Epidemiology, Pathophysiology and Clinical Manifestations. J. Clin. Med. 2021;10:2235. doi: 10.3390/jcm10112235. - DOI - PMC - PubMed
    1. Dziadkowiak E., Waliszewska-Prosół M., Wieczorek M., Bladowska J., Budrewicz S., Ejma M. Myasthenia Gravis-An Analysis of Multimodal Evoked Potentials. Brain Sci. 2021;11:1057. doi: 10.3390/brainsci11081057. - DOI - PMC - PubMed
    1. El-Salem K., Yassin A., Al-Hayk K., Yahya S., Al-Shorafat D., Dahbour S.S. Treatment of MuSK-Associated Myasthenia Gravis. Curr. Treat. Options Neurol. 2014;16:283. doi: 10.1007/s11940-014-0283-8. - DOI - PubMed
    1. Rodolico C., Bonanno C., Toscano A., Vita G. MuSK-Associated Myasthenia Gravis: Clinical Features and Management. Front. Neurol. 2020;11:660. doi: 10.3389/fneur.2020.00660. - DOI - PMC - PubMed