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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Dove Medical Press
2015
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oai:doaj.org-article:40b9f8b4c33540fbae3385fd083e204a2021-12-02T06:55:27ZMutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders1178-1998https://doaj.org/article/40b9f8b4c33540fbae3385fd083e204a2015-07-01T00:00:00Zhttps://www.dovepress.com/mutations-in-presenilin-2-and-its-implications-in-alzheimerrsquos-dise-peer-reviewed-article-CIAhttps://doaj.org/toc/1178-1998Yan 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 diseaseCai YAn SSAKim SYDove Medical Pressarticlepresenilin 2mutationAlzheimer's diseaseGeriatricsRC952-954.6ENClinical Interventions in Aging, Vol Volume 10, Pp 1163-1172 (2015) |
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DOAJ |
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DOAJ |
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EN |
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presenilin 2 mutation Alzheimer's disease Geriatrics RC952-954.6 |
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presenilin 2 mutation Alzheimer's disease Geriatrics RC952-954.6 Cai Y An SSA Kim SY Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders |
| 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 |
| format |
article |
| author |
Cai Y An SSA Kim SY |
| author_facet |
Cai Y An SSA Kim SY |
| author_sort |
Cai Y |
| title |
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_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_sort |
mutations in presenilin 2 and its implications in alzheimer’s disease and other dementia-associated disorders |
| publisher |
Dove Medical Press |
| publishDate |
2015 |
| url |
https://doaj.org/article/40b9f8b4c33540fbae3385fd083e204a |
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