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 prev...
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| Veröffentlicht in: | Human genome variation 2014-07, Vol.1 (1), p.14004-14004, Article 14004 |
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| creator | 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 |
| 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. |
| doi_str_mv | 10.1038/hgv.2014.4 |
| format | Article |
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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.</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/hgv.2014.4</identifier><identifier>PMID: 27081498</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/378/2583 ; 692/499 ; 692/699/375/365/1283 ; Biomedical and Life Sciences ; Biomedicine ; Data Report ; Gene Expression ; Gene Function ; Gene Therapy ; Human Genetics ; Molecular Medicine</subject><ispartof>Human genome variation, 2014-07, Vol.1 (1), p.14004-14004, Article 14004</ispartof><rights>The Author(s) 2014</rights><rights>Copyright Nature Publishing Group Jul 2014</rights><rights>Copyright © 2014 The Japan Society of Human Genetics 2014 The Japan Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3574-413587d59a0fbbc5092d03effe62f696d43be2a88431cf819683bd39888f20a73</citedby><cites>FETCH-LOGICAL-c3574-413587d59a0fbbc5092d03effe62f696d43be2a88431cf819683bd39888f20a73</cites><orcidid>0000-0003-1131-3195 ; 0000-0001-7040-0892</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785525/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785525/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,315,728,781,785,865,886,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27081498$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Artemov, Artem V</creatorcontrib><creatorcontrib>Boulygina, Eugenia S</creatorcontrib><creatorcontrib>Tsygankova, Svetlana V</creatorcontrib><creatorcontrib>Nedoluzhko, Artem V</creatorcontrib><creatorcontrib>Chekanov, Nikolay N</creatorcontrib><creatorcontrib>Gruzdeva, Natalia M</creatorcontrib><creatorcontrib>Selezneva, Natalia D</creatorcontrib><creatorcontrib>Roshchina, Irina F</creatorcontrib><creatorcontrib>Gavrilova, Svetlana I</creatorcontrib><creatorcontrib>Velichkovsky, Boris B</creatorcontrib><creatorcontrib>Skryabin, Konstantin G</creatorcontrib><creatorcontrib>Prokhortchouk, Egor B</creatorcontrib><title>Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><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. 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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.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>27081498</pmid><doi>10.1038/hgv.2014.4</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0003-1131-3195</orcidid><orcidid>https://orcid.org/0000-0001-7040-0892</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | 631/378/2583 692/499 692/699/375/365/1283 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine |
| title | Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation |
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