Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

We report a family case of type II early-onset Alzheimer’s disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previ...

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Autores principales: Artemov, Artem V, Boulygina, Eugenia S, Tsygankova, Svetlana V, Nedoluzhko, Artem V, Chekanov, Nikolay N, Gruzdeva, Natalia M, Selezneva, Natalia D, Roshchina, Irina F, Gavrilova, Svetlana I, Velichkovsky, Boris B, Skryabin, Konstantin G, Prokhortchouk, Egor B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785525/
https://www.ncbi.nlm.nih.gov/pubmed/27081498
http://dx.doi.org/10.1038/hgv.2014.4
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author Artemov, Artem V
Boulygina, Eugenia S
Tsygankova, Svetlana V
Nedoluzhko, Artem V
Chekanov, Nikolay N
Gruzdeva, Natalia M
Selezneva, Natalia D
Roshchina, Irina F
Gavrilova, Svetlana I
Velichkovsky, Boris B
Skryabin, Konstantin G
Prokhortchouk, Egor B
author_facet Artemov, Artem V
Boulygina, Eugenia S
Tsygankova, Svetlana V
Nedoluzhko, Artem V
Chekanov, Nikolay N
Gruzdeva, Natalia M
Selezneva, Natalia D
Roshchina, Irina F
Gavrilova, Svetlana I
Velichkovsky, Boris B
Skryabin, Konstantin G
Prokhortchouk, Egor B
author_sort Artemov, Artem V
collection PubMed
description We report a family case of type II early-onset Alzheimer’s disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients.
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spelling pubmed-47855252016-04-14 Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation Artemov, Artem V Boulygina, Eugenia S Tsygankova, Svetlana V Nedoluzhko, Artem V Chekanov, Nikolay N Gruzdeva, Natalia M Selezneva, Natalia D Roshchina, Irina F Gavrilova, Svetlana I Velichkovsky, Boris B Skryabin, Konstantin G Prokhortchouk, Egor B Hum Genome Var Data Report We report a family case of type II early-onset Alzheimer’s disease (AD) inherited over three generations. None of the patients in the family had mutations in the genes believed to be the major risk factors for AD, such as APP, presenilin 1 or 2. Targeted exome sequencing of 249 genes that were previously reported to be associated with AD revealed a rare mutation in hemochromatosis (HFE) gene known to be associated with hemochromotosis. Compared to previous studies, we show that HFE mutation can possess the risk of AD in transferrin-, APOE- and APP-normal patients. Nature Publishing Group 2014-07-31 /pmc/articles/PMC4785525/ /pubmed/27081498 http://dx.doi.org/10.1038/hgv.2014.4 Text en Copyright © 2014 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/3.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Data Report
Artemov, Artem V
Boulygina, Eugenia S
Tsygankova, Svetlana V
Nedoluzhko, Artem V
Chekanov, Nikolay N
Gruzdeva, Natalia M
Selezneva, Natalia D
Roshchina, Irina F
Gavrilova, Svetlana I
Velichkovsky, Boris B
Skryabin, Konstantin G
Prokhortchouk, Egor B
Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title_full Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title_fullStr Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title_full_unstemmed Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title_short Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
title_sort study of alzheimer family case reveals hemochromotosis-associated hfe mutation
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785525/
https://www.ncbi.nlm.nih.gov/pubmed/27081498
http://dx.doi.org/10.1038/hgv.2014.4
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