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Updated: Jun 8, 2026

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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
Summary
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.

