Related Experiment Video
Updated: Jun 6, 2026
11:35
The Multiple Sclerosis Performance Test (MSPT): An iPad-Based Disability Assessment Tool
Published on: June 30, 2014
MGAT5 and disease severity in progressive multiple sclerosis.
Federica Esposito1, Jerome Wojcik, Mariaemma Rodegher
1INSPE and Department of Neurology, Division of Neuroscience, San Raffaele Scientific Institute, 20132 Milan, Italy.
Journal of Neuroimmunology
|December 1, 2010
Summary
The MGAT5 gene may influence multiple sclerosis (MS) severity in progressive forms. A specific allele, rs1257169(G), showed association with lower disease severity in Italian patients.
Area of Science:
- Neuroimmunology
- Genetics of Neurological Disorders
- Multiple Sclerosis Pathogenesis
Background:
- The MGAT5 gene has been previously linked to multiple sclerosis (MS) severity.
- Understanding genetic factors influencing disease progression is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the role of MGAT5 single nucleotide polymorphisms (SNPs) in the severity of progressive multiple sclerosis (MS).
Main Methods:
- Genotyping of 11 SNPs within the MGAT5 locus in an Italian cohort of patients with primary progressive or progressive-relapsing MS.
- Statistical analysis to assess the association between specific alleles and disease severity, including age of onset as a covariate.
Main Results:
- The rs1257169(G) allele was significantly associated with lower MS disease severity (p=0.02).
- SNP rs539588 showed nominal significance when age of onset was included as a covariate.
- No SNPs reached statistical significance after multiple testing correction.
Conclusions:
- Suggestive evidence indicates MGAT5 involvement in the severity of progressive MS.
- Larger sample sizes are required to confirm these findings and fully elucidate MGAT5's role in this rare disease course.
More Related Videos
Related Concept Videos
01:19Multiple Sclerosis l: Introduction
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
01:22Myasthenia Gravis ll: Pathophysiology
The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
01:20Myasthenia Gravis: Overview and Treatment
Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...