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Updated: Jun 8, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
BDNF Val66Met polymorphism and brain volumes in multiple sclerosis
D Dinacci1, A Tessitore, A Russo
1Department of Neurological Science, Second University of Naples, Piazza Miraglia 2, 80131, Naples, Italy. daria.3@libero.it
Abstract:
Brain derived neurotrophic factor (BDNF) regulates several CNS physiological and pathological processes. To investigate in multiple sclerosis (MS) patients, the relationship between the Val66Met polymorphism of BDNF and clinical markers of disease activity and MRI markers of focal and diffuse brain pathologies. 45 MS patients and 34 healthy controls (HCs) were genotyped and subjected to clinical-MRI examination. Global white matter fraction (gWM-f), gray matter-f (GM-f), cerebrospinal fluid-f (CSF-f), and abnormal WM-f were measured. We studied 26 Val/Val and 19 Val/Met patients and 23 Val/Val and 11 Val/Met HCs. We found that Val/Val patients had lower GM-f and higher CSF-f than Val/Val HCs; such differences were not statistically significant comparing Val/Met patients to HCs. The regression analysis showed that both Val/Met genotype and relapse number were associated with lower CSF-f. Our data suggest that Met allele might be a protective factor against MS as it is associated to a lower brain atrophy.
Insights
The brain-derived neurotrophic factor (BDNF) Val66Met polymorphism may protect against multiple sclerosis (MS). The Met allele is linked to reduced brain atrophy in MS patients, suggesting a potential protective role.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Brain-derived neurotrophic factor (BDNF) plays a crucial role in central nervous system (CNS) physiological and pathological processes.
- Understanding genetic factors influencing multiple sclerosis (MS) is vital for disease management and therapeutic development.
Purpose of the Study:
- To investigate the association between the BDNF Val66Met polymorphism and clinical and MRI markers of disease activity in MS patients.
- To explore the potential protective role of the BDNF Met allele against brain atrophy in MS.
Main Methods:
- Genotyping of the BDNF Val66Met polymorphism in 45 MS patients and 34 healthy controls (HCs).
- Clinical-MRI examinations to assess global white matter fraction (gWM-f), gray matter fraction (GM-f), cerebrospinal fluid fraction (CSF-f), and abnormal white matter fraction (aWM-f).
- Statistical analysis including regression to identify associations between genotype, clinical markers, and MRI measures.
Main Results:
- Val/Val genotype MS patients exhibited lower GM-f and higher CSF-f compared to Val/Val HCs.
- No statistically significant differences were observed between Val/Met MS patients and HCs.
- Regression analysis indicated that the Val/Met genotype and a higher number of relapses were associated with lower CSF-f.
Conclusions:
- The BDNF Met allele may confer a protective effect against MS.
- The Val66Met polymorphism is associated with brain atrophy markers in MS, with the Met allele potentially mitigating disease-related changes.
