The genetics of Alzheimer's disease
Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Kor...
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Dove Medical Press
2014
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oai:doaj.org-article:242c3127e1be4c238c2569642f09f0862021-12-02T01:38:52ZThe genetics of Alzheimer's disease1178-1998https://doaj.org/article/242c3127e1be4c238c2569642f09f0862014-04-01T00:00:00Zhttps://www.dovepress.com/the-genetics-of-alzheimer39s-disease-peer-reviewed-article-CIAhttps://doaj.org/toc/1178-1998Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea*These authors contributed equally to this workAbstract: Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). The apolipoprotein E (APOE) E4 allele has been found to be a main risk factor for late-onset Alzheimer's disease. Additionally, genome-wide association studies (GWASs) have identified several genes that might be potential risk factors for AD, including clusterin (CLU), complement receptor 1 (CR1), phosphatidylinositol binding clathrin assembly protein (PICALM), and sortilin-related receptor (SORL1). Recent studies have discovered additional novel genes that might be involved in late-onset AD, such as triggering receptor expressed on myeloid cells 2 (TREM2) and cluster of differentiation 33 (CD33). Identification of new AD-related genes is important for better understanding of the pathomechanisms leading to neurodegeneration. Since the differential diagnoses of neurodegenerative disorders are difficult, especially in the early stages, genetic testing is essential for diagnostic processes. Next-generation sequencing studies have been successfully used for detecting mutations, monitoring the epigenetic changes, and analyzing transcriptomes. These studies may be a promising approach toward understanding the complete genetic mechanisms of diverse genetic disorders such as AD.Keywords: dementia, amyloid precursor protein, presenilin 1, presenilin 2, APOE, mutation, diagnosis, genetic testingBagyinszky EYoun YCAn SSAKim SYDove Medical Pressarticledementiaamyloid precursor proteinpresenilin 1presenilin 2APOEmutationdiagnosisgenetic testingGeriatricsRC952-954.6ENClinical Interventions in Aging, Vol Volume 9, Pp 535-551 (2014) |
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dementia amyloid precursor protein presenilin 1 presenilin 2 APOE mutation diagnosis genetic testing Geriatrics RC952-954.6 |
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dementia amyloid precursor protein presenilin 1 presenilin 2 APOE mutation diagnosis genetic testing Geriatrics RC952-954.6 Bagyinszky E Youn YC An SSA Kim SY The genetics of Alzheimer's disease |
| description |
Eva Bagyinszky,1 Young Chul Youn,2 Seong Soo A An,1,* SangYun Kim3,*1Department of BioNano Technology Gachon University, Gyeonggi-do, 2Department of Neurology, Chung-Ang University College of Medicine, Seoul, 3Department of Neurology, Seoul National University Budang Hospital, Gyeonggi-do, South Korea*These authors contributed equally to this workAbstract: Alzheimer's disease (AD) is a complex and heterogeneous neurodegenerative disorder, classified as either early onset (under 65 years of age), or late onset (over 65 years of age). Three main genes are involved in early onset AD: amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). The apolipoprotein E (APOE) E4 allele has been found to be a main risk factor for late-onset Alzheimer's disease. Additionally, genome-wide association studies (GWASs) have identified several genes that might be potential risk factors for AD, including clusterin (CLU), complement receptor 1 (CR1), phosphatidylinositol binding clathrin assembly protein (PICALM), and sortilin-related receptor (SORL1). Recent studies have discovered additional novel genes that might be involved in late-onset AD, such as triggering receptor expressed on myeloid cells 2 (TREM2) and cluster of differentiation 33 (CD33). Identification of new AD-related genes is important for better understanding of the pathomechanisms leading to neurodegeneration. Since the differential diagnoses of neurodegenerative disorders are difficult, especially in the early stages, genetic testing is essential for diagnostic processes. Next-generation sequencing studies have been successfully used for detecting mutations, monitoring the epigenetic changes, and analyzing transcriptomes. These studies may be a promising approach toward understanding the complete genetic mechanisms of diverse genetic disorders such as AD.Keywords: dementia, amyloid precursor protein, presenilin 1, presenilin 2, APOE, mutation, diagnosis, genetic testing |
| format |
article |
| author |
Bagyinszky E Youn YC An SSA Kim SY |
| author_facet |
Bagyinszky E Youn YC An SSA Kim SY |
| author_sort |
Bagyinszky E |
| title |
The genetics of Alzheimer's disease |
| title_short |
The genetics of Alzheimer's disease |
| title_full |
The genetics of Alzheimer's disease |
| title_fullStr |
The genetics of Alzheimer's disease |
| title_full_unstemmed |
The genetics of Alzheimer's disease |
| title_sort |
genetics of alzheimer's disease |
| publisher |
Dove Medical Press |
| publishDate |
2014 |
| url |
https://doaj.org/article/242c3127e1be4c238c2569642f09f086 |
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