TY - JOUR
T1 - The roles of iron and HFE genotype in neurological diseases
AU - Kim, Yunsung
AU - Connor, James R.
N1 - Funding Information:
Two studies have shown that ALS patients with H63D HFE variant have longer survival (Chiò et al., 2015; Su et al., 2013a). Additionally, four other studies have found overrepresentation of H63D HFE variant in the ALS patient population compared to healthy controls (Sutedja et al., 2007; Wang et al., 2004a; Goodall et al., 2005; He et al., 2011a) (Table 3). This may be interpreted as increased risk for ALS with this HFE variant; however, because some studies show increase in survival with disease, the overrepresentation of H63D HFE could be due enrollment bias, further supporting the idea that H63D HFE slows progression of ALS.
Publisher Copyright:
© 2020 Elsevier Ltd
PY - 2020/10
Y1 - 2020/10
N2 - Iron accumulation is a recurring pathological phenomenon in many neurological diseases including Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, and others. Iron is essential for normal development and functions of the brain; however, excess redox-active iron can also lead to oxidative damage and cell death. Especially for terminally differentiated cells like neurons, regulation of reactive oxygen species is critical for cell viability. As a result, cellular iron level is tightly regulated. Although iron accumulation related to neurological diseases has been well documented, the pathoetiological contributions of the homeostatic iron regulator (HFE), which controls cellular iron uptake, is less understood. Furthermore, a common HFE variant, H63D HFE, has been identified as a modifier of multiple neurological diseases. This review will discuss the roles of iron and HFE in the brain as well as their impact on various disease processes.
AB - Iron accumulation is a recurring pathological phenomenon in many neurological diseases including Parkinson's disease, Alzheimer's disease, amyotrophic lateral sclerosis, and others. Iron is essential for normal development and functions of the brain; however, excess redox-active iron can also lead to oxidative damage and cell death. Especially for terminally differentiated cells like neurons, regulation of reactive oxygen species is critical for cell viability. As a result, cellular iron level is tightly regulated. Although iron accumulation related to neurological diseases has been well documented, the pathoetiological contributions of the homeostatic iron regulator (HFE), which controls cellular iron uptake, is less understood. Furthermore, a common HFE variant, H63D HFE, has been identified as a modifier of multiple neurological diseases. This review will discuss the roles of iron and HFE in the brain as well as their impact on various disease processes.
UR - https://www.scopus.com/pages/publications/85087676199
UR - https://www.scopus.com/pages/publications/85087676199#tab=citedBy
U2 - 10.1016/j.mam.2020.100867
DO - 10.1016/j.mam.2020.100867
M3 - Review article
C2 - 32654761
AN - SCOPUS:85087676199
SN - 0098-2997
VL - 75
JO - Molecular Aspects of Medicine
JF - Molecular Aspects of Medicine
M1 - 100867
ER -