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The complex genetic aetiology of multiple sclerosis
1Department of Neurology, School of Medicine, University of California, San Francisco, California, CA 94143-0435, USA.
Journal of Neurovirology
|June 29, 2000
Summary
Multiple sclerosis (MS) tissue injury stems from an abnormal immune response to myelin antigens in genetically susceptible individuals. Research is identifying multiple genes contributing to MS susceptibility and disease development.
Area of Science:
- Immunology
- Epidemiology
- Genetics
Background:
- Multiple sclerosis (MS) involves tissue injury due to an abnormal immune response targeting myelin antigens.
- Genetic susceptibility and an environmental trigger are implicated in MS pathogenesis.
- Family and twin studies indicate a significant genetic component in MS.
Purpose of the Study:
- To review progress in defining the genetic basis of MS.
- To outline strategies for characterizing genes involved in MS susceptibility and pathogenesis.
- To discuss the implications of genetic findings for understanding MS etiology, risk assessment, and therapeutics.
Main Methods:
- Review of immunologic, epidemiologic, and genetic data.
- Analysis of whole genome screens in diverse populations.
- Examination of linkage data, including the Major Histocompatibility Complex (MHC).
Main Results:
- Genetic data strongly suggest MS develops in susceptible individuals following exposure to an environmental agent.
- Whole genome screens have identified chromosomal regions linked to MS susceptibility.
- The Major Histocompatibility Complex (MHC) on 6p21 is a key region, but a complex genetic architecture with multiple genes of small to moderate effect is indicated.
Conclusions:
- MS likely arises from a complex interplay of multiple genes and environmental factors.
- Identifying MS susceptibility genes is crucial for understanding disease etiology.
- Genetic characterization will advance risk assessment and therapeutic strategies for MS.