Patients with myasthenia gravis (MG) appear to have a distinct serum amino acid profile that differs from that of healthy patients, according to a recently published study in Amino Acids.

Furthermore, amino acid concentrations appear to vary by type of treatment, which could imply amino acids play a role in MG pathogenesis, the study shows.

MG biomarkers acetylcholine receptor (AChR) or muscle-specific kinase (MuSK) have an important diagnostic utility. However, a significant percentage of patients with MG are seronegative for either 1 or 2 of these markers. Furthermore, these biomarkers do not correlate with treatment success or disease severity.

The literature suggests that immunoregulatory T cells could play an important role in MG pathogenesis. Therefore, disturbances in the metabolism of amino acids vital to T cell functioning could contribute to the pathogenesis of the disease.

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Metabolic profiling focusing on amino acid detection has been suggested to be useful in detecting markers in neurodegenerative and autoimmune diseases.

“The aim of the study is to use [high-performance liquid chromatography] with mass spectrometry detection in conjunction with multivariate statistical analyses to determine changes in the amino acid metabolic profiles of MG patients compared to controls,” the authors wrote.

The results showed significant differences between the amino acid profile of patients with MG and healthy controls, mainly in the concentrations of glutamine, L-arginine, and histidine.

Comparison in patients receiving different types of treatment showed that L-phenylalanine, O-acetyl serine, and N2-acetyl-L-ornithine concentrations were different in patients receiving treatment with Mestinon® plus steroids than in patients receiving monotherapy.

“This study showed that amino acids may be involved in mechanisms underlying myasthenia gravis pathogenesis and may also be considered as potential indicators of certain pathways altered in myasthenia,” the authors wrote.

Researchers recommend further studies with larger patient samples to validate the results of the present study and assess whether amino acids could serve as biomarkers in MG. 


Kośliński P, Rzepiński Ł, Daghir-Wojtkowiak E, Koba M, Maciejek Z. Serum amino acid profiles in patients with myasthenia gravis. J Amino Acids. Published online July 20, 2023. doi:10.1007/s00726-023-03303-3