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Updated: Mar 22, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation
Artem V Artemov1, Eugenia S Boulygina2, Svetlana V Tsygankova2
1Center 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
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.
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