title: 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.
authors.affiliation: Center 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
authors.forename: Artem V
authors.initials: AV
authors.lastname: Artemov
authors.affiliation: National Research Center 'Kurchatov Institute' , Moscow, Russia.
authors.forename: Eugenia S
authors.initials: ES
authors.lastname: Boulygina
authors.affiliation: National Research Center 'Kurchatov Institute' , Moscow, Russia.
authors.forename: Svetlana V
authors.initials: SV
authors.lastname: Tsygankova
authors.affiliation: National Research Center 'Kurchatov Institute' , Moscow, Russia.
authors.forename: Artem V
authors.identifier: 0000-0001-7040-0892
authors.initials: AV
authors.lastname: Nedoluzhko
authors.affiliation: Center 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
authors.forename: Nikolay N
authors.identifier: 0000-0003-1131-3195
authors.initials: NN
authors.lastname: Chekanov
authors.affiliation: National Research Center 'Kurchatov Institute' , Moscow, Russia.
authors.forename: Natalia M
authors.initials: NM
authors.lastname: Gruzdeva
authors.affiliation: Mental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
authors.forename: Natalia D
authors.initials: ND
authors.lastname: Selezneva
authors.affiliation: Mental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
authors.forename: Irina F
authors.initials: IF
authors.lastname: Roshchina
authors.affiliation: Mental Health Research Centre (MHRC), Russian Academy of Medical Science , Moscow, Russia.
authors.forename: Svetlana I
authors.initials: SI
authors.lastname: Gavrilova
authors.affiliation: Lomonosov Moscow State University , Moscow, Russia.
authors.forename: Boris B
authors.initials: BB
authors.lastname: Velichkovsky
authors.affiliation: Center 'Bioengineering', Russian Academy of Sciences, Moscow, Russia; National Research Center 'Kurchatov Institute', Moscow, Russia.
authors.forename: Konstantin G
authors.initials: KG
authors.lastname: Skryabin
authors.affiliation: Center 'Bioengineering', Russian Academy of Sciences , Moscow, Russia.
authors.forename: Egor B
authors.initials: EB
authors.lastname: Prokhortchouk