Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.

ABSTRACT:

Background

Unbiased in silico approaches applied to genome-wide data prioritized putative functional gene variants associating with treatment-resistant ophthalmoplegic myasthenia gravis (OP-MG). Although altered expression of genes harbouring these variants, or associated pathways, were shown in patient-derived transdifferentiated-myocyte models, gene expression in orbital-derived muscle was required to test the validity of the predictions.

Methods

We sampled orbicularis oculi muscle (OOM) and one paralysed extraocular muscle (EOM) from six individuals with OP-MG during blepharoptosis and re-alignment surgeries, respectively. For controls, the OOMs were sampled from four individuals without myasthenia undergoing surgery for non-muscle causes of ptosis, and one non-paralysed

SUBMITTER: Europa TA 

PROVIDER: S-EPMC7731744 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature