The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease /
Although a central etiology for Alzheimer disease (AD) has not yet been determined, support has amassed for the notion that oxidative stress may be involved in the pathogenesis of AD. The disruption of iron homeostasis and iron's excessive deposition in AD brain tissues has received increase...
Main Author: | |
---|---|
Other Authors: | |
Format: | Others |
Language: | en |
Published: |
McGill University
2002
|
Subjects: | |
Online Access: | http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=78245 |
id |
ndltd-LACETR-oai-collectionscanada.gc.ca-QMM.78245 |
---|---|
record_format |
oai_dc |
spelling |
ndltd-LACETR-oai-collectionscanada.gc.ca-QMM.782452014-02-13T04:05:22ZThe role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease /Berlin, DanielHemochromatosis.Alzheimer Disease.Mutagenesis.Although a central etiology for Alzheimer disease (AD) has not yet been determined, support has amassed for the notion that oxidative stress may be involved in the pathogenesis of AD. The disruption of iron homeostasis and iron's excessive deposition in AD brain tissues has received increased attention due to the metal's capacity to promote the production of harmful free radicals. Several studies have recently examined whether DNA mutations involved in the iron overload disorder, hemochromatosis, pose an increased risk of acquiring AD. However, the small sample size and low generalizability of previous studies have warranted further investigation. We genotyped 213 AD patients, 106 Mild Cognitively Impaired (MCI) individuals, and 63 Normal Elderly Control (NEC) subjects for the H63D and C282Y HFE mutations to examine whether a relationship exists between HFE gene status and AD presentation in our patient population. DNA analysis was conducted by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). We did not find any statistically significant associations between HFE gene status and the clinical, demographic, or neuropsychological aspects of AD in our patient population. Interesting trends that fell short of statistical significance included: (a) a deleterious effect of HFE mutations on motor performance, (b) an influence of H63D homozygosity on an earlier onset of cognitive decline, and (c) an influence of H63D homozygosity on an accelerated progression from MCI to AD.McGill UniversitySchipper, Hyman M. (advisor)2002Electronic Thesis or Dissertationapplication/pdfenalephsysno: 001974757proquestno: AAIMQ88153Theses scanned by UMI/ProQuest.All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated.Master of Science (Division of Neuroscience.) http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=78245 |
collection |
NDLTD |
language |
en |
format |
Others
|
sources |
NDLTD |
topic |
Hemochromatosis. Alzheimer Disease. Mutagenesis. |
spellingShingle |
Hemochromatosis. Alzheimer Disease. Mutagenesis. Berlin, Daniel The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
description |
Although a central etiology for Alzheimer disease (AD) has not yet been determined, support has amassed for the notion that oxidative stress may be involved in the pathogenesis of AD. The disruption of iron homeostasis and iron's excessive deposition in AD brain tissues has received increased attention due to the metal's capacity to promote the production of harmful free radicals. Several studies have recently examined whether DNA mutations involved in the iron overload disorder, hemochromatosis, pose an increased risk of acquiring AD. However, the small sample size and low generalizability of previous studies have warranted further investigation. We genotyped 213 AD patients, 106 Mild Cognitively Impaired (MCI) individuals, and 63 Normal Elderly Control (NEC) subjects for the H63D and C282Y HFE mutations to examine whether a relationship exists between HFE gene status and AD presentation in our patient population. DNA analysis was conducted by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP). We did not find any statistically significant associations between HFE gene status and the clinical, demographic, or neuropsychological aspects of AD in our patient population. Interesting trends that fell short of statistical significance included: (a) a deleterious effect of HFE mutations on motor performance, (b) an influence of H63D homozygosity on an earlier onset of cognitive decline, and (c) an influence of H63D homozygosity on an accelerated progression from MCI to AD. |
author2 |
Schipper, Hyman M. (advisor) |
author_facet |
Schipper, Hyman M. (advisor) Berlin, Daniel |
author |
Berlin, Daniel |
author_sort |
Berlin, Daniel |
title |
The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
title_short |
The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
title_full |
The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
title_fullStr |
The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
title_full_unstemmed |
The role of HFE (hemochromatosis) gene mutations in sporadic Alzheimer disease / |
title_sort |
role of hfe (hemochromatosis) gene mutations in sporadic alzheimer disease / |
publisher |
McGill University |
publishDate |
2002 |
url |
http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=78245 |
work_keys_str_mv |
AT berlindaniel theroleofhfehemochromatosisgenemutationsinsporadicalzheimerdisease AT berlindaniel roleofhfehemochromatosisgenemutationsinsporadicalzheimerdisease |
_version_ |
1716645003304894464 |