Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature

An, Ran; Chen, Huijiao; Song, Lei; Li, Yang; Xu, Yanming; He, Chengqi

doi:10.3389/fneur.2022.926786

Front. Neurol.

2022

DOI: 10.3389/fneur.2022.926786

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Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature

Ran An

Huijiao Chen

Lei Song

et al.

Abstract: He C ( ) Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT mutations and review of literature.

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2024

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Cited by 2 publications

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A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

Holland,

Carmona-Martinez,

O’Connor

et al. 2024

Biomolecules

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The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impaired neuromuscular transmission at the NMJ, resulting in fatigable muscle weakness. A subset of five of these CMS-causative genes are associated with protein glycosylation. Glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) is the rate-limiting enzyme within the hexosamine biosynthetic pathway (HBP), a metabolic pathway that produces the precursors for glycosylation. We hypothesized that deficiency in Gfpt1 expression results in aberrant or reduced glycosylation, impairing the proper assembly and stability of key NMJ-associated proteins. Using both in vitro and in vivo Gfpt1-deficient models, we determined that the acetylcholine receptor delta subunit (AChRδ) has reduced expression and is hypo-glycosylated. Using laser capture microdissection, NMJs were harvested from Gfpt1 knockout mouse muscle. A lower-molecular-weight species of AChRδ was identified at the NMJ that was not detected in controls. Furthermore, Gfpt1-deficient muscle lysates showed impairment in protein O-GlcNAcylation and sialylation, suggesting that multiple glycan chains are impacted. Other key NMJ-associated proteins, in addition to AChRδ, may also be differentially glycosylated in Gfpt1-deficient muscle.

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A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

Holland,

Carmona-Martinez,

O’Connor

et al. 2024

Biomolecules

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Limb-Girdle Type Congenital Myasthenic Syndrome Anticipated With Scoliosis: A Case Report

Kvirtia,

Gagnidze,

Tatishvili

et al. 2024

Cureus

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Congenital myasthenic syndromes (CMS) comprise a group of inherited disorders that impair signal transduction as well as the structural integrity of the neuromuscular junction. Since there are several gene mutations associated with CMS, including the rare GFPT1 gene, the clinical presentation of this condition is quite variable. Importantly, patients with the same genotype can exhibit different clinical features. CMS type 12, as seen in our patient, is characterized by weakness of the limb-girdle muscles, which was anticipated with scoliosis. It is important to note that scoliosis is not generally linked to the GFPT1 mutation, and based on our case, it contributed to a broader and more complex clinical presentation.

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Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature

Abstract: He C ( ) Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT mutations and review of literature.

Cited by 2 publications

References 29 publications

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

A Deficiency in Glutamine-Fructose-6-Phosphate Transaminase 1 (Gfpt1) in Skeletal Muscle Results in Reduced Glycosylation of the Delta Subunit of the Nicotinic Acetylcholine Receptor (AChRδ)

Limb-Girdle Type Congenital Myasthenic Syndrome Anticipated With Scoliosis: A Case Report

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