Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction

BACKGROUND: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia...

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Autores principales: Youn, Young Chul, Bagyinszky, Eva, Kim, HyeRyoun, Choi, Byung-Ok, An, Seong Soo, Kim, SangYun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036836/
https://www.ncbi.nlm.nih.gov/pubmed/24885952
http://dx.doi.org/10.1186/1471-2377-14-105
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author Youn, Young Chul
Bagyinszky, Eva
Kim, HyeRyoun
Choi, Byung-Ok
An, Seong Soo
Kim, SangYun
author_facet Youn, Young Chul
Bagyinszky, Eva
Kim, HyeRyoun
Choi, Byung-Ok
An, Seong Soo
Kim, SangYun
author_sort Youn, Young Chul
collection PubMed
description BACKGROUND: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region. CONCLUSION: It could be a novel mutation verified with structural prediction in a patient with Alzheimer’s disease.
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spelling pubmed-40368362014-05-29 Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction Youn, Young Chul Bagyinszky, Eva Kim, HyeRyoun Choi, Byung-Ok An, Seong Soo Kim, SangYun BMC Neurol Case Report BACKGROUND: PSEN2 mutations are rare variants, and fewer than 30 different PSEN2 mutations have been found. So far, it has not been reported in Asia. CASE PRESENTATION: PSEN2 mutation at codon 214 for predicting a valine to leucine substitution was found in a 70-year-old woman, who showed a dementia of the Alzheimer type. We did not find the mutation in 614 control chromosomes. We also predicted the structures of presenilin 2 protein with native Val 214 residue and Leu 214 mutation, which revealed significant structural changes in the region. CONCLUSION: It could be a novel mutation verified with structural prediction in a patient with Alzheimer’s disease. BioMed Central 2014-05-15 /pmc/articles/PMC4036836/ /pubmed/24885952 http://dx.doi.org/10.1186/1471-2377-14-105 Text en Copyright © 2014 Youn et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Youn, Young Chul
Bagyinszky, Eva
Kim, HyeRyoun
Choi, Byung-Ok
An, Seong Soo
Kim, SangYun
Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title_full Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title_fullStr Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title_full_unstemmed Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title_short Probable novel PSEN2 Val214Leu mutation in Alzheimer’s disease supported by structural prediction
title_sort probable novel psen2 val214leu mutation in alzheimer’s disease supported by structural prediction
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036836/
https://www.ncbi.nlm.nih.gov/pubmed/24885952
http://dx.doi.org/10.1186/1471-2377-14-105
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