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P2‐122: ANALYSIS OF DEMENTIA‐RELATED GENE VARIANTS IN APOE ε4 NONCARRYING KOREAN PATIENTS WITH EARLY‐ONSET ALZHEIMER'S DISEASE
Author(s) -
Kim Hee Jin,
Park Jong Eun,
Kim Young-Eun,
Jang Hyemin,
Cho Soo Hyun,
Kim Seung Joo,
Na Duk L.,
Ki Chang-Seok,
Seo Sang Won
Publication year - 2019
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2019.06.2529
Subject(s) - psen1 , dementia , frontotemporal dementia , apolipoprotein e , medicine , disease , trem2 , biomarker , early onset alzheimer's disease , allele , alzheimer's disease , genetics , gene , presenilin , biology , microglia , inflammation
revealed that mutations in SORL1 could also be involved in early onset Alzheimer’s disease (EOAD). Methods: Whole exome sequencing was performed onKorean patients with AD or dementia under 65 years of age. 3D protein structural prediction was also carried out on missense mutations in SORL1. Results: Several rare probable novel or rare SORL1 variants were discovered, such as V277I, G511R, S711F, D862E or P1876R. These mutations were predicted as possibly damaging variants, and 3D protein structural prediction revealed significant structure disturbances on following variants, such as V277M, G511R, A528T or R1159Q. Conclusions: Emerging evidences indicated that SORL1 could be also involved in early onset form of AD. These mutations may impact the disease onset through loss-of-function mechanisms. In future, family members will be recruited for the segregation analyses. Functional studies are in the works for the functional role of SORL1 missense mutations in AD.