New targets for treatment of patients with early-onset and late-onset myasthenia: genes and immune pathways are very different

Myasthenia gravis is an autoimmune immune disease, clinical manifestations of muscle weakness and fatigue
.

About 80% of patients with systemic myasthenia gravis have autoantibodies against acetylcholine receptor (AChR) in the post-synaptic muscle endplate

Myasthenia gravis is an autoimmune immune disease, clinical manifestations of muscle weakness and fatigue

Lahiru Handunnetthi et al.

The team used a new genomic methodology to combine the results of the genome-wide association study ( GWAS ) of myasthenia gravis with cell type-specific information such as gene expression patterns and promoter-enhancer interactions to identify disease-related Gene
.

Subsequently, genomic research was conducted, including quantitative analysis of the expression of 313 healthy people, to provide insights into the mechanism

The team used a new genomic methodology to combine the results of the genome-wide association study ( GWAS ) of myasthenia gravis with cell-type-specific information such as gene expression patterns and promoter-enhancer interactions to identify disease-related Gene

According to GWAS-related risk variants including TNIP1, ORMDL3, GSDMB and TRAF3, genes specifically related to early-onset myasthenia gravis have been identified
.

According to GWAS-related risk variants including TNIP1, ORMDL3, GSDMB and TRAF3, genes specifically related to early-onset myasthenia gravis have been identified
.

Studies have found that Toll -like receptor 4 signal regulators are only enriched in early-onset disease genes (folding enrichment = 3.
85, p = 6.
4×10 ^-3 )
.

In contrast, T cell regulatory factors CD28 and CTLA4 are only associated with late-onset disease

Studies have found that Toll -like receptor 4 signal regulators are only enriched in early-onset disease genes (folding enrichment = 3.

This study combines the GWAS results of patients with myasthenia gravis positive for AChR antibodies with cell type-specific genomic information in immune cells, highlights several key differences in immune pathways between EO and LO diseases, and supports that multiple mechanisms can The concept of autoimmunity that causes myasthenia gravis
.

The findings of this study advance the knowledge gained through GWAS by providing functional evidence of genes previously involved in EO and LO myasthenia gravis, such as TNIP1 and CLTA4

This study combines the GWAS results of patients with myasthenia gravis positive for AChR antibodies with cell type-specific genomic information in immune cells, highlights several key differences in immune pathways between EO and LO diseases, and supports that multiple mechanisms can The concept of autoimmunity that causes myasthenia gravis

This research provides new insights into the immune pathways related to EO and LO diseases

Genomic insights into myasthenia gravis identify distinct immunological mechanisms in early and late onset disease.

Genomic insights into myasthenia gravis identify distinct immunological mechanisms in early and late onset disease.
19 July 2021.
Ann Neurol is here to leave a message