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ApoE2 allele, Down's syndrome, and dementia
M C Royston1, D Mann, S Pickering-Brown
1Department of Psychiatry, Charing Cross and Westminster Medical School, London, United Kingdom.
Annals of the New York Academy of Sciences
|January 17, 1996
Summary
Individuals with Down's syndrome (DS) experience Alzheimer's pathology, but the ApoE E2 allele may promote longevity and preserve cognitive function in aging DS patients.
Area of Science:
- Neuroscience
- Genetics
- Gerontology
Background:
- Individuals with Down's syndrome (DS) universally develop Alzheimer's disease (AD) hallmarks later in life.
- The degree of beta-amyloid pathology in DS correlates with age and dementia severity.
- Clinical dementia is observed in only a subset of older DS individuals, suggesting modulating factors.
Purpose of the Study:
- To investigate the influence of apolipoprotein E (ApoE) genotype on clinical dementia symptoms in elderly individuals with Down's syndrome.
- To explore the relationship between ApoE genotype and the expression of Alzheimer's disease pathology in DS.
Main Methods:
- Examined the ApoE genotype in a cohort of clinically evaluated elderly patients with Down's syndrome.
- Correlated ApoE genotype with clinical dementia status and cognitive functioning.
Main Results:
- The apolipoprotein E E2 (ApoE E2) allele was associated with increased longevity in the studied DS cohort.
- Presence of the ApoE E2 allele correlated with preserved cognitive functioning despite active Alzheimer's disease pathology.
Conclusions:
- Apolipoprotein E genotype influences the clinical manifestation of Alzheimer's disease in Down's syndrome.
- The ApoE E2 allele may confer a protective effect, promoting cognitive resilience and longevity in aging individuals with DS.