Study of Alzheimer family case reveals hemochromotosis-associated HFE mutation

Autor:	Konstantin G. Skryabin, Artem V. Artemov, N. M. Gruzdeva, Nikolay Chekanov, Svetlana V. Tsygankova, Boris B. Velichkovsky, Eugenia S. Boulygina, Natalia D. Selezneva, Egor Prokhortchouk, Gavrilova Si, Artem V. Nedoluzhko, Roshchina If
Rok vydání:	2014
Předmět:	chemistry.chemical_classification Apolipoprotein E Genetics Disease Biology medicine.disease Bioinformatics Biochemistry Presenilin chemistry Transferrin Mutation (genetic algorithm) medicine Data Report Molecular Biology Gene Hemochromatosis Exome sequencing
Zdroj:	Human Genome Variation
ISSN:	2054-345X
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e316d867af9407734d20c53830d05cb https://pubmed.ncbi.nlm.nih.gov/27081498 Zobrazit plný text záznamu