Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

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
Hauptverfasser: 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
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Sprache:eng
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Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
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Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/hgv.2014.4