MMP-2 -1575G/A polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS?

Area of Science:

• Neuroimmunology
• Genetics
• Neurology

Background:

• Matrix metalloproteinases (MMPs), specifically MMP-2 and MMP-9, show altered activity in multiple sclerosis (MS) and neuromyelitis optica (NMO).
• Optic neuritis (ON) is a frequent presenting symptom in both MS and NMO, indicating potential shared pathophysiological mechanisms.

Purpose of the Study:

• To investigate the influence of specific gene polymorphisms in MMP-2 (-1575G/A) and MMP-9 (-1562 C/T) on the clinical phenotype of MS.
• To determine if these polymorphisms affect disease onset, particularly in MS patients presenting with ON.

Main Methods:

• Genotyping of MMP-2 -1575G/A and MMP-9 -1562 C/T polymorphisms.
• Analysis of disease onset age in 100 MS patients with initial ON versus 376 MS patients with other initial symptoms.

Main Results:

• The MMP-2 -1575G/A polymorphism was significantly associated with an earlier age of disease onset in MS patients whose first symptom was ON (p=0.009).
• No significant association was found for the MMP-9 -1562 C/T polymorphism with disease onset in the studied MS cohorts.

Conclusions:

• The MMP-2 -1575G/A gene polymorphism may serve as a predictive factor for earlier disease onset in multiple sclerosis patients experiencing optic neuritis.
• Further research is warranted to elucidate the precise role of MMP-2 in MS pathogenesis and its impact on disease trajectory.