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Genetics of subcortical vascular dementia
Helena Schmidt1, Paul Freudenberger, Stephan Seiler
1Institute of Molecular Biology and Biochemistry, Centre for Molecular Medicine, Medical University of Graz, Harrachgasse 21, A-8010 Graz, Austria. helena.schmidt@meduni-graz.at
Experimental Gerontology
|June 28, 2012
Summary
Subcortical vascular dementia, a common cause of elderly disability, involves white matter lesions. Genetic studies reveal novel genes on chromosome 17q25, suggesting new disease mechanisms.
Area of Science:
- Neurology
- Genetics
- Geriatrics
Background:
- Subcortical vascular dementia (or cerebral small vessel disease) is a major cause of disability in older adults.
- Magnetic resonance imaging reveals white matter lesions, lacunes, and microbleeds associated with this condition.
- Age and hypertension are known risk factors, and white matter lesions show high heritability.
Purpose of the Study:
- To explore the genetic underpinnings of white matter lesions in subcortical vascular dementia.
- To identify novel genes and pathways involved in the development of cerebral small vessel disease.
Main Methods:
- Review of linkage studies and candidate gene association studies.
- Analysis of genome-wide association study data for white matter lesions.
Main Results:
- Previous studies implicated APOE, renin-angiotensin system, and Notch3 signaling.
- A novel locus on chromosome 17q25 was identified through genome-wide association studies.
- TRIM65 and TRIM47 genes within this locus are potential contributors to white matter lesions.
Conclusions:
- Genetic factors play a significant role in subcortical vascular dementia.
- The identification of the 17q25 locus and associated genes opens new avenues for understanding disease mechanisms.
- Further research into TRIM65, TRIM47, and related pathways is warranted.
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