Apolipoprotein ε 7 allele in memory complaints: insights through protein structure prediction

• Published in: Clinical interventions in aging Vol. 12; p. 1095
• Main Authors: Youn, Young Chul, Lim, Yong Kwan, Han, Su-Hyun, Giau, Vo Van, Lee, Mi-Kyung, Park, Kwang-Yeol, Kim, SangYun, Bagyinszky, Eva, An, Seong Soo A, Kim, Hye Ryoun
• Format: Journal Article
• Language: English
• Published: New Zealand 2017
• Subjects: Aged; Alleles; Alzheimer Disease - genetics; Apolipoprotein E3 - chemistry; Apolipoprotein E3 - genetics; Apolipoprotein E4 - chemistry; Apolipoprotein E4 - genetics; Apolipoproteins E - genetics; Cognitive Dysfunction - genetics; Female; Humans; Male; Memory; Middle Aged; Problem Solving; Republic of Korea; Risk Factors; vascular cognitive impairment; small vessel disease; apolipoprotein structure; Alzheimer’s disease
• ISSN: 1178-1998
• DOI: 10.2147/CIA.S131172

gene is a rare mutant form of . The mutation occurs in the lipid-binding domain of APOE. Based on the protein's structure, is expected to function in lipid and β-amyloid metabolism, similar to . However, unlike that for , the mechanisms responsible for Alzheimer's disease (AD) cases associated with expression have not been elucidated. The present study aims to investigate the association between expression and cognitive impairment. was sequenced in DNA samples collected from 344 memory-complaint patients who visited the memory clinic, and from 345 non-memory-complaint individuals from the health promotion center. The protein structures of ApoE3, ApoE4, and ApoE7 were predicted. Three / heterozygote individuals who were all classified under the memory-complaint group were identified. Of these, two subjects were clinically diagnosed with AD with small vessel disease, and the remaining individual was diagnosed with subjective cognitive impairment. This study predicted the protein structures of ApoE3, ApoE4, and ApoE7 and determined the three-dimensional structure of the carboxy terminus of ApoE7, which participates in an electrostatic domain interaction similar to that of . K244 or K245 mutations for were not found in the Korean reference genome database, which contains information (http://152.99.75.168/KRGDB/browser/mainBrowser.jsp) from 622 healthy individuals. As verified by the results of structural prediction, could serve as another risk factor for cognitive impairment and is particularly associated with vascular disease. However, additional studies are required to validate the pathogenic nature of .