Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders
Yan Cai,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, 2Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, South Korea Abstract: Alzh...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2015-07-01
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| Series: | Clinical Interventions in Aging |
| Subjects: | |
| Online Access: | https://www.dovepress.com/mutations-in-presenilin-2-and-its-implications-in-alzheimerrsquos-dise-peer-reviewed-article-CIA |
| _version_ | 1818743302714818560 |
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| author | Cai Y An SSA Kim SY |
| author_facet | Cai Y An SSA Kim SY |
| author_sort | Cai Y |
| collection | DOAJ |
| description | Yan Cai,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, 2Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, South Korea Abstract: Alzheimer’s disease (AD) is the most common form of dementia. Mutations in the genes encoding presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein have been identified as the main genetic causes of familial AD. To date, more than 200 mutations have been described worldwide in PSEN1, which is highly homologous with PSEN2, while mutations in PSEN2 have been rarely reported. We performed a systematic review of studies describing the mutations identified in PSEN2. Most PSEN2 mutations were detected in European and in African populations. Only two were found in Korean populations. Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson’s disease with dementia. Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders. Keywords: mutations in presenilin 2, Alzheimer’s disease |
| first_indexed | 2024-12-18T02:26:15Z |
| format | Article |
| id | doaj.art-40b9f8b4c33540fbae3385fd083e204a |
| institution | Directory Open Access Journal |
| issn | 1178-1998 |
| language | English |
| last_indexed | 2024-12-18T02:26:15Z |
| publishDate | 2015-07-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Clinical Interventions in Aging |
| spelling | doaj.art-40b9f8b4c33540fbae3385fd083e204a2022-12-21T21:24:01ZengDove Medical PressClinical Interventions in Aging1178-19982015-07-01Volume 101163117222605Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disordersCai YAn SSAKim SYYan Cai,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, 2Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam-si, Gyeonggi-do, South Korea Abstract: Alzheimer’s disease (AD) is the most common form of dementia. Mutations in the genes encoding presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein have been identified as the main genetic causes of familial AD. To date, more than 200 mutations have been described worldwide in PSEN1, which is highly homologous with PSEN2, while mutations in PSEN2 have been rarely reported. We performed a systematic review of studies describing the mutations identified in PSEN2. Most PSEN2 mutations were detected in European and in African populations. Only two were found in Korean populations. Interestingly, PSEN2 mutations appeared not only in AD patients but also in patients with other disorders, including frontotemporal dementia, dementia with Lewy bodies, breast cancer, dilated cardiomyopathy, and Parkinson’s disease with dementia. Here, we have summarized the PSEN2 mutations and the potential implications of these mutations in dementia-associated disorders. Keywords: mutations in presenilin 2, Alzheimer’s diseasehttps://www.dovepress.com/mutations-in-presenilin-2-and-its-implications-in-alzheimerrsquos-dise-peer-reviewed-article-CIApresenilin 2mutationAlzheimer's disease |
| spellingShingle | Cai Y An SSA Kim SY Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders Clinical Interventions in Aging presenilin 2 mutation Alzheimer's disease |
| title | Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| title_full | Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| title_fullStr | Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| title_full_unstemmed | Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| title_short | Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| title_sort | mutations in presenilin 2 and its implications in alzheimer rsquo s disease and other dementia associated disorders |
| topic | presenilin 2 mutation Alzheimer's disease |
| url | https://www.dovepress.com/mutations-in-presenilin-2-and-its-implications-in-alzheimerrsquos-dise-peer-reviewed-article-CIA |
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