MIF -173G/C polymorphism is associated with NMO disease severity
Livnat Brill1, Adi Vaknin-Dembinsky1, Omri Zveik1
1Department of Neurology and Laboratory of Neuroimmunology, and the Agnes-Ginges Center for Neurogenetics, Hadassah Medical Center, Hebrew University of Jerusalem, The Faculty of Medicine, Israel.
Journal of Neuroimmunology
|December 3, 2019
Summary
Genetic factors influencing neuromyelitis optica (NMO) worsening are unclear. Macrophage migration inhibitory factor (MIF) gene variants are linked to NMO severity, particularly in patients with both optic neuritis and myelitis, indicating a role in disease progression.
Area of Science:
- Neuroimmunology
- Genetics
- Neurology
Background:
- Neuromyelitis optica (NMO) is a severe autoimmune disorder affecting the central nervous system.
- Genetic factors contributing to NMO disease progression remain largely unknown.
- Macrophage migration inhibitory factor (MIF) is a key inflammatory cytokine with potential roles in autoimmune diseases.
Purpose of the Study:
- To investigate the association between the macrophage migration inhibitory factor (MIF) -173G/C functional polymorphism and neuromyelitis optica (NMO).
- To explore the relationship between MIF genotypes and clinical characteristics, including disease severity and symptom presentation in NMO patients.
Main Methods:
- Genotyping of the MIF -173G/C polymorphism in NMO patients and healthy controls.
- Analysis of genotype frequencies in relation to NMO diagnosis, clinical phenotypes (optic neuritis, myelitis), and disability scores (e.g., Expanded Disability Status Scale).
- Statistical comparison between patient and control groups, and among subgroups of NMO patients.
Main Results:
- No significant difference in the frequency of high-expression MIF genotypes (CC/GC) was observed between NMO patients and controls, suggesting no link to NMO susceptibility.
- The frequency of high-expression MIF genotypes (CC/GC) was significantly elevated in NMO patients presenting with both optic neuritis and myelitis compared to those with only one symptom.
- Patients with CC/CG MIF genotypes exhibited significantly higher disability scores, indicating a correlation with increased NMO severity.
Conclusions:
- The macrophage migration inhibitory factor (MIF) -173G/C polymorphism is associated with the severity of neuromyelitis optica (NMO), rather than susceptibility to the disease.
- MIF genotypes may influence clinical outcomes and disability progression in NMO patients, particularly those with combined opticospinal and spinal cord involvement.
Keywords:
AutoimmuneBiomarkerExpanded disability status scoreMacrophage migration inhibitory factorNeuromyelitis opticaSingle nucleotide polymorphism

