Student Directory

Research Interest: The effect of H63D HFE polymorphism on mitochondrial dysfunction in amyotrophic lateral sclerosis

Advisor: James Connor, PhD
Graduate Program: Molecular Medicine

Thesis:

Description:Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease), is a debilitating neurodegenerative disorder affecting both upper and lower motor neurons.  Research from our lab and others has shown that approximately 30% of ALS patients with the sporadic form of ALS carry a mutation in the HFE gene, which is associated with iron overload in hemochromatosis.  Furthermore, ongoing studies suggest a role for mitochondrial dysfunction in the pathogenesis of ALS.  Changes in mitochondrial morphology, localization, calcium buffering capacity, and regulation of oxidative phosphorylation as well as mitophagy and apoptosis occur in mouse models of the disease.  Building upon these findings, my research will investigate the role of mitochondrial dysfunction in various model systems relevant to ALS.  I will study human cell lines carrying mutant HFE vectors, as well as mice with HFE, superoxide dismutase (SOD, implicated in familial ALS) or both HFE and SOD gene mutations.  Finally, I will build upon current lab collaborations with the Penn State Hershey ALS Clinic to analyze mitochondrial dysfunction as well as biomarkers correlated with clinically meaningful prognostic indicators in patients.

Su XW and ‹ndar A (2009) Brain Protection During Pediatric Cardiopulmonary Bypass Artificial Organs 34(4):E91-E102 PMID: 20420605 

Guan Y, Su XW, McCoach R, Kunselman A, El-Banayosy A, ‹ndar A (2009) Mechanical performance comparison between RotaFlow and CentriMag centrifugal blood pumps in an adult ECLS model Perfusion (accepted) PMID: 20212070

Guan Y, Su XW, McCoach R, Wise R, Kunselman A, ‹ndar A (2009) Evaluation of Quadrox-i ® Adult Hollow Fiber Oxygenator with Integrated Arterial Filter J of Extracorporeal Technology (accepted) PMID: 20648898

Girgenti MJ, Collier E, Sathyanesan M, Su XW, Newton SS (2010) Characterization of electroconvulsive seizure-induced TIMP-1 and MMP-9 in hippocampal vasculature International J of Neuropsychopharmacology 1-10; 14(4): 535-44PMID: 20678305

Yee S, Qiu F, Su XW, Rider A, Kunselman AR, Guan Y, Undar A (2010) Evaluation of HL-20 Roller Pump and Rotaflow Centrifugal Pump on Perfusion Quality and Gaseous Microemboli Delivery Artif Organs doi: 10.1111/j.1525-1594; 34(11): 937-43  PMID: 20946282

Qiu F, Guan Y, Su X, Kunselman A, Undar A (2010) Evaluation of Neonatal Membrane Oxygenators with Respect to Gaseous Microemboli Capture and Transmembrane Pressure Gradients Artif Organs 34(11):923-929 PMID: 21092035

Su XW, Feng Q, Undar A (2011) Brain Protection During Pediatric CPB Chin J ECC 9(1): 40-47

Su XW, Guan Y, Barnes M, Clark JB, Myers JL, Undar A (2011) Improved cerebral oxygen saturation and blood flow pulsatility with pulsatile perfusion during pediatric cardiopulmonary bypass  Ped Res 70(2):181-85

Su XW, Lee SY, Mitchell RM, Stephens HE, Simmons Z, Connor JR (2012) H63D HFE polymorphisms are associated with decreased SOD1 expression in the muscle of amyotrophic lateral sclerosis patients J Muscle and Nerve (accepted)