Apolipoprotein E Polymorphism in Korean Patients with Down's ?Syndrome

J Korean Neurol Assoc > Volume 13(4); 1995 > Article

Journal of the Korean Neurological Association 1995;13(4): 767-772.

한국인 Down증후군 환자에서의 Apolipoprotein E의 다형현상에 관한 ?연구

한설희, 한문구, 이도훈, 김재진, 정승연, 이일근, 김진규

충북대학교 신경과. 임상병리과. 정신과, 가톨릭의대 소아과, ?삼성의료원 신경과...

Apolipoprotein E Polymorphism in Korean Patients with Down's ?Syndrome

Seol Heui Han, M.D., Moon Ku Han, M.D., Do Hoon Lee, M.D., Jae Jin Kim, M.D., Seung Yun Chung, M.D., Il Keun Lee, M.D., Jin Q Kim, M.D.

Department of Neurology, Clinical Pathology, Psychiatry, Chungbuk National University, Dept of Pediatrics, Catholic University , Dept of Neurology, Samsung Medical Center, Dept of Clinical Laboratory, Seoul National University

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. Key Words : Apolipoprotein E, genotype, Alzheimer's disease, suceptibility gene, Down's syndrome, amyloid forming disease