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 previ...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785525/
https://www.ncbi.nlm.nih.gov/pubmed/27081498
http://dx.doi.org/10.1038/hgv.2014.4
Descripción
Sumario: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.

Ejemplares similares