Sang Y. Lee, PhD, Penn State College of Medicine
The Lee laboratory investigates the cellular mechanisms of neurodegenerative disorders and brain tumors mediated by oxidative stress and iron mismanagement. Iron is tightly regulated for normal function. When iron imbalance occurs by dysfunction of iron regulatory mechanisms, cells are subjected to a pro-oxidative stress and a pro-inflammatory environment. HFE is one of several iron regulatory proteins and polymorphisms in the HFE gene are prevalent in Caucasians. HFE gene variants have been traditionally associated with the iron overload disorder known as Hereditary Hemochromatosis. Recently, it has become clear that the two most common variants in the HFE gene, H63D and C282Y, may be risk modifiers for neurodegenerative disorders (Alzheimer's disease, Amyotrophic Lateral Sclerosis) and cancer, respectively.
Part of The Investigator's Annexe program.
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References
- Lee SY et al. Consequences of expressing mutants of the hemochromatosis gene (HFE) into a human neuronal cell line lacking endogenous HFE. FASEB J. 2007. 21(2):564-576.
- Lee SY, Liu S, Mitchell RM, Slagle-Webb B, Hong Y, Sheehan JM, and Connor JR. HFE polymorphisms influence the response to chemotherapeutic agents via induction of p16INK4A. International Journal of Cancer 2011. 129:2104-2114.
- Liu Y, Lee SY, Neely E, Nandar W, Moyo M, Simmons Z, Connor JR. Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. JBC 2011. 286(15):13161-13170.
- Wang XS, Lee S, Simmons Z, Boyer P, Scott K, Liu W, Connor J. Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences. J Neurol Sci. 2004 Dec 15;227(1):27-33.
