Genetic analysis of Vietnamese patients with early-onset Alzheimer's disease
| Autor: | Dat Thanh Nguyen, Quynh-Tho Thi Nguyen, Minh-Duy Phan, Hoa Giang, Thanh-Thuy Thi Do, Trang Mai Tong, Kiet D Truong, Loc Phuoc Doan, Thang Cong Tran, Thuy Thi Hong Dao, Hoai-Nghia Nguyen |
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| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Mutation rate Vietnamese Population Amyloid beta-Protein Precursor 03 medical and health sciences 0302 clinical medicine Asian People Alzheimer Disease Presenilin-1 medicine PSEN1 Humans Dementia Early-onset Alzheimer's disease Genetic Testing Age of Onset Allele education Aged Genetics education.field_of_study business.industry General Neuroscience General Medicine medicine.disease language.human_language 030104 developmental biology Mutation language Age of onset business 030217 neurology & neurosurgery |
| Zdroj: | International Journal of Neuroscience. 132:1190-1197 |
| ISSN: | 1543-5245 0020-7454 |
| DOI: | 10.1080/00207454.2020.1870974 |
| Popis: | Purpose of the study: Alzheimer's disease (AD) is the most common type of dementia and its prevalence is rapidly increasing worldwide. Early-onset Alzheimer's disease (EOAD) constitutes of patients with age of onset earlier than 65 year-old and is known to be associated with genetic mutations. In this study, we reported the first genetic analysis of Vietnamese patients with EOAD. Materials and methods: We analyzed targeted sequencing data obtained from a cohort of 51 Vietnamese EOAD patients to identify pathogenic variants in twenty nine well-characterized neurodengerative genes. Results: We identified four missense mutations in APP/PSEN1 genes from six individuals, which accounts for 11.8% of all tested cases. Three of these mutations were previously reported as pathogenic and one mutation in the APP gene was newly identified and might be specific for Vietnamese patients. Our study also found eight individuals carrying homozygous APOE ε4 allele, the main risk factor gene for late-onset AD. Conclusions: Our findings showed that mutation rate in APP/PSEN genes in Vietnamese EOAD patients is consistent with that in other ethnic groups. Although further functional studies are required to validate the pathogenesis of the new mutations, our study demonstrated the necessity of genetic screening for EOAD patients as well as additional genetic data collection in Vietnamese population. |
| Databáze: | OpenAIRE |
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