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Open AccessArticle

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

Department of Industrial and Environmental Engineering, Graduate School of Environment Gachon University, Seongnam 13120, Korea
Department of Neurology, Gachon University Gil Medical Center, Incheon 21565, Korea
Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam 13620, Korea
Department of Neurology, Veterans Medical Research Institute, Veterans Health Service Medical Center, Seoul 05368, Korea
Institute of Research and Development, Duy Tan University, Danang 550000, Vietnam
Department of Bionano Technology, Gachon University, Seongnam 13120, Korea
Authors to whom correspondence should be addressed.
These authors contributed equally to this work.
Diagnostics 2020, 10(6), 405;
Received: 20 May 2020 / Revised: 8 June 2020 / Accepted: 12 June 2020 / Published: 14 June 2020
(This article belongs to the Special Issue Alzheimer’s Disease Pathophysiology)
We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old. Magnetic resonance imaging (MRI) scans showed diffuse atrophy in the fronto-parietal regions. In addition, 18F-fludeoxyglucose positron emission tomography (FDG-PET) showed reduced tracer uptake in the parietal and temporal cortices, bilaterally. The second patient developed memory dysfunction at the age of 49, and his mother was also affected. Amyloid positron emission tomography (PET) was positive, but MRI scans did not reveal any atrophy. Targeted NGS and Sanger sequencing identified a heterozygous C to T exchange in PSEN1 exon 5 (c.356C>T), resulting in a p.Thr119Ile mutation. The mutation is located in the conserved HL-I loop, where several Alzheimer’s disease (AD) related mutations have been described. Structure analyses suggested that Thr119Ile mutation may result in a significant change inside conservative loop. Additional in vitro studies are needed to estimate the role of the PSEN1 Thr119Ile in AD disease progression. View Full-Text
Keywords: Alzheimer’s disease; Thr119Ile mutation; presenilin-1; next generation sequencing Alzheimer’s disease; Thr119Ile mutation; presenilin-1; next generation sequencing
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Bagyinszky, E.; Lee, H.; Pyun, J.M.; Suh, J.; Kang, M.J.; Vo, V.G.; An, S.S.A.; Park, K.H.; Kim, S. Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease. Diagnostics 2020, 10, 405.

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