Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing |
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| Authors: | Ryoichi Yagi Ryosuke Miyamoto Hiroyuki Morino Yuishin Izumi Masahito Kuramochi Takashi Kurashige Hirofumi Maruyama Noriyoshi Mizuno Hidemi Kurihara Hideshi Kawakami |
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| Affiliation: | 1. Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan;2. Department of Periodontal Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan;3. Department of Clinical Neuroscience, Institute of Health Biosciences, Graduate School of Medicine, University of Tokushima, Tokushima, Japan;4. Department of Anatomical Pathology, Hiroshima University Hospital, Hiroshima, Japan |
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| Abstract: | Alzheimer's disease (AD) is the most common form of dementia. To date, several genes have been identified as the cause of AD, including PSEN1, PSEN2, and APP. The association between APOE and late-onset AD has also been reported. We here used a bench top next-generation sequencer, which uses an integrated semiconductor device, detects hydrogen ions, and operates at a high-speed using nonoptical technology. We examined 45 Japanese AD patients with positive family histories, and 29 sporadic patients with early onset (<60-year-old). Causative mutations were detected in 5 patients in the familial group (11%). Three patients had a known heterozygous missense mutation in the PSEN1 gene (p.H163R). Two patients from 1 family had a novel heterozygous missense mutation in the PSEN1 gene (p.F386L). In the early onset group, 1 patient carrying homozygous APOEε4 had a novel heterozygous missense mutation in the PSEN2 gene (p.T421M). Approximately 43% patients were APOEε4 positive in our study. This new sequencing technology is useful for detecting genetic variations in familial AD. |
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| Keywords: | Alzheimer's disease PSEN1 PSEN2 APOE Mutations Ion sequencing technology |
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