Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease
Vo Van Giau,1,* Vorapun Senanarong,2,* Eva Bagyinszky,1 Chanin Limwongse,2 Seong Soo A An,1 SangYun Kim3 1Department of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam, South Korea; 2Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 3Dep...
Guardado en:
| Autores principales: | , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Dove Medical Press
2018
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/f16f9a80ca5c4953baab26022d6e8559 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:f16f9a80ca5c4953baab26022d6e8559 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:f16f9a80ca5c4953baab26022d6e85592021-12-02T00:26:23ZIdentification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease1178-2021https://doaj.org/article/f16f9a80ca5c4953baab26022d6e85592018-11-01T00:00:00Zhttps://www.dovepress.com/identification-of-a-novel-mutation-in-app-gene-in-a-thai-subject-with--peer-reviewed-article-NDThttps://doaj.org/toc/1178-2021Vo Van Giau,1,* Vorapun Senanarong,2,* Eva Bagyinszky,1 Chanin Limwongse,2 Seong Soo A An,1 SangYun Kim3 1Department of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam, South Korea; 2Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 3Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam, South Korea *These authors contributed equally to this work Introduction: Early-onset Alzheimer’s disease (AD) accounts for than less 1% of all AD cases, with large variation in the reported genetic contributions of known dementia genes. Mutations in the amyloid precursor protein (APP) gene were the first to be recognized as the cause of AD. Methods: Here, a male patient with probable early-onset AD at the age of 55 years from Thailand was investigated by next-generation sequencing. Results: A novel mutation in exon 14 of APP (c.1810C>T, p.V604M) was found. He initially illustrated the clinical manifestations of progressive nonfluent aphasia in 2011. However, he was finally diagnosed with AD presenting logopenic aphasia in 2013. The follow-up magnetic resonance imaging scan showed progression of hippocampal trophy compared with the initial image. A 3D protein structure model revealed that V604M exchange could result in significant changes in the APP protein due to the increased hydrophobicity of methionine in the helix, which could result in altering of the APP functions. Conclusion: Additional studies to characterize APP p.V604M are necessary to further understand the effects of this mutation. Keywords: APP, Alzheimer’s disease, Thailand, V604MGiau VVSenanarong VBagyinszky ELimwongse CAn SSAKim SYDove Medical PressarticleAPPAlzheimer diseaseThailandV604MNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571Neurology. Diseases of the nervous systemRC346-429ENNeuropsychiatric Disease and Treatment, Vol Volume 14, Pp 3015-3023 (2018) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
APP Alzheimer disease Thailand V604M Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 |
| spellingShingle |
APP Alzheimer disease Thailand V604M Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Neurology. Diseases of the nervous system RC346-429 Giau VV Senanarong V Bagyinszky E Limwongse C An SSA Kim SY Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| description |
Vo Van Giau,1,* Vorapun Senanarong,2,* Eva Bagyinszky,1 Chanin Limwongse,2 Seong Soo A An,1 SangYun Kim3 1Department of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam, South Korea; 2Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; 3Department of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam, South Korea *These authors contributed equally to this work Introduction: Early-onset Alzheimer’s disease (AD) accounts for than less 1% of all AD cases, with large variation in the reported genetic contributions of known dementia genes. Mutations in the amyloid precursor protein (APP) gene were the first to be recognized as the cause of AD. Methods: Here, a male patient with probable early-onset AD at the age of 55 years from Thailand was investigated by next-generation sequencing. Results: A novel mutation in exon 14 of APP (c.1810C>T, p.V604M) was found. He initially illustrated the clinical manifestations of progressive nonfluent aphasia in 2011. However, he was finally diagnosed with AD presenting logopenic aphasia in 2013. The follow-up magnetic resonance imaging scan showed progression of hippocampal trophy compared with the initial image. A 3D protein structure model revealed that V604M exchange could result in significant changes in the APP protein due to the increased hydrophobicity of methionine in the helix, which could result in altering of the APP functions. Conclusion: Additional studies to characterize APP p.V604M are necessary to further understand the effects of this mutation. Keywords: APP, Alzheimer’s disease, Thailand, V604M |
| format |
article |
| author |
Giau VV Senanarong V Bagyinszky E Limwongse C An SSA Kim SY |
| author_facet |
Giau VV Senanarong V Bagyinszky E Limwongse C An SSA Kim SY |
| author_sort |
Giau VV |
| title |
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| title_short |
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| title_full |
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| title_fullStr |
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| title_full_unstemmed |
Identification of a novel mutation in APP gene in a Thai subject with early-onset Alzheimer's disease |
| title_sort |
identification of a novel mutation in app gene in a thai subject with early-onset alzheimer's disease |
| publisher |
Dove Medical Press |
| publishDate |
2018 |
| url |
https://doaj.org/article/f16f9a80ca5c4953baab26022d6e8559 |
| work_keys_str_mv |
AT giauvv identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease AT senanarongv identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease AT bagyinszkye identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease AT limwongsec identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease AT anssa identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease AT kimsy identificationofanovelmutationinappgeneinathaisubjectwithearlyonsetalzheimer39sdisease |
| _version_ |
1718403775886000128 |