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Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

ABSTRACT: 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.

SUBMITTER: Artemov AV

PROVIDER: S-EPMC4785525 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation.

Artemov Artem V AV Boulygina Eugenia S ES Tsygankova Svetlana V SV Nedoluzhko Artem V AV Chekanov Nikolay N NN Gruzdeva Natalia M NM Selezneva Natalia D ND Roshchina Irina F IF Gavrilova Svetlana I SI Velichkovsky Boris B BB Skryabin Konstantin G KG Prokhortchouk Egor B EB

Human genome variation 20140731

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 ...[more]

PMID: 27081498

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