J Korean Neurol Assoc.
1995 Dec;13(4):767-772.
Apolipoprotein E Polymorphism in Korean Patients with Down's Syndrome
- Affiliations
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- 1Department of Neurology, Clinical Pathology, Psychiatry, Chungbuk National University, Korea.
- 2Dept of Pediatrics, Catholic University, Korea.
- 3Dept of Neurology, Samsung Medical Center, Korea.
- 4Dept of Clinical Laboratory, Seoul National University, Korea.
Abstract
- An association between the apolipoprotein E 4(APOE 4) allele and pathological changes in Alzheimer's disease(AD) is now well established. We analyzed the APOE genotype in patients with another amyloid forming disease, Down's syndrome(DS). It is well-known that patients with DS develop the neuropathological features of AD if they reach middle adult life. The amyloid precursor protein gene is located m chromosome 21 and increased expression of this gene over a patient's lifetime is thought to underlie the development of this pathology. We examined the APOE genotypes of 19 cytogenetically confirmed DS patients. The allele frequencies in this group did not differ from the general population. Our data suggest that the APOE 4 is not essential pathomechanism of AD pathology in patients with DS. Prospective analysis of the occurrence of AD in DS population and APOE genotype is warranted.
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