Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

Abstract

There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E ε4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E ε4 noncarrying Korean patients with early-onset Alzheimer's disease.

• Authors: Jong Eun Park, Hee Jin Kim, Young-Eun Kim, Hyemin Jang, Soo Hyun Cho, Seung Joo Kim, Duk L Na, Hong-Hee Won, Chang-Seok Ki, Sang Won Seo
• Journal: Neurobiology of aging (Neurobiol Aging) Vol. 85 Pg. 155.e5-155.e8 (01 2020) ISSN: 1558-1497 [Electronic] United States
• PMID: 31217084 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 Elsevier Inc. All rights reserved.

Chemical References

• Adaptor Proteins, Signal Transducing
• Apolipoproteins E
• LDL-Receptor Related Proteins
• Membrane Glycoproteins
• Membrane Proteins
• Membrane Transport Proteins
• PSEN1 protein, human
• Presenilin-1
• Receptors, Immunologic
• SORL1 protein, human
• TREM2 protein, human
• TYROBP protein, human
• Protein Kinases
• PTEN-induced putative kinase

Topics

• Adaptor Proteins, Signal Transducing (genetics)
• Age of Onset
• Alzheimer Disease (genetics)
• Apolipoproteins E (genetics)
• Asian People
• Dementia (genetics)
• Genetic Variation (genetics)
• Heterozygote
• Humans
• LDL-Receptor Related Proteins (genetics)
• Membrane Glycoproteins (genetics)
• Membrane Proteins (genetics)
• Membrane Transport Proteins (genetics)
• Presenilin-1 (genetics)
• Protein Kinases (genetics)
• Receptors, Immunologic (genetics)
• Exome Sequencing