Metabolism & Organ Function in Metabolic Disease

The goal of our work is to investigate mechanisms and treatments for skeletal muscle and heart abnormalities in pediatric and adult metabolic disease.

Our laboratory is interested in the examination of mechanisms and treatments (nutritional/exercise/pharmacologic) for skeletal muscle and myocardial substrate (e.g. amino acid, glucose, fatty acid) metabolism, energetic, and functional abnormalities in metabolic diseases such as: Barth syndrome and other pediatric and adult cardiomyopathies, HIV-related metabolic syndrome, diabetes mellitus, and obesity. We are also interested in the effect of the maternal metabolic environment during pregnancy on in utero development and childhood metabolic disease including obesity, diabetes, and HIV. We employ methodology used to measure whole-body substrate metabolism by stable isotope tracers and mass spectrometry, myocardial substrate metabolism by radio-isotopes and PET imaging, heart and skeletal muscle energetics by magnetic resonance spectroscopy (MRS), peak fitness assessment by graded exercise testing and indirect calorimetry, cardiac function by echocardiography, body composition analysis by dual-energy x-ray absorptiometry (DXA) and air displacement plethymosgraphy, muscle strength by isokinetic dynamometry, and daily physical activity by actigraphy.

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Faculty Investigators

W. Todd Cade, PT, PhD


Kathryn Bohnert, MS


Adam Bittel, PhD Student
Alyssa Collier, DPT Student
Elizabeth Sitterly, DPT Student

Current Research Studies

Characterization of the ‘Metabolic Phenotype’ in Barth Syndrome with Cardiac Transplantation
Funding Source: Barth Syndrome Foundation

The goal of this study is to characterize the metabolic ‘phenotype’ (cardioskeletal morphology, substrate metabolism, energetics and function) of participants with BTHS who with cardiac transplantation.

Effects of Resistance Exercise Training on Cardiac, Metabolic and Muscle Function and Quality of Life in Barth Syndrome: Part 2
Funding Source: Barth Syndrome Foundation

The major goal of this project is to examine the safety and efficacy of resistance exercise training and protein supplementation in boys and young men with Barth syndrome.

Planning for Clinical Gene Therapy Program for Barth Syndrome
Funding Source: Barth Syndrome Foundation (PI: Byrne BJ)

The overall goal of the project is to refine and translate the current preclinical work with the goal of pushing toward clinical realization.  In particular, we propose simultaneous initiation of regulatory paperwork processes along with completing necessary baseline characterization data and toxicological analysis of a gene therapy strategy of systemic delivery of AAV9-TAZ for the treatment of Barth syndrome.

Heart and Skeletal Muscle Nutrient Metabolism, Energetics and Function in Barth Syndrome
Funding Source: NIH 1 R01HL107406-01A1 NCE

The major goals of this project are to characterize myocardial and skeletal muscle nutrient metabolism, energetics and function in children and young adults with Barth syndrome.

HIV- and ART-Associated Cardiometabolic Research Training in Rwanda
Funding Source: Fogarty Center D43 TW010335 01 (PI: Mutimura E)

The overall goal of this training strategy is to develop scientific leadership in HIV- and ART-associated cardiometabolic (CM) research in Rwanda through developing a dynamic team of scholars to implement well- designed contextually relevant studies, publish and present results at scientific meetings, and for networking, and develop expertise for independent research funding.

Exercise Training to Improve Brain Health in HIV+ Individuals
Funding Source: NIH 1 R01 NR015738-01A1 (PI: Ances BM)

This project will test the impact of a combined endurance and resistance exercise training program on the cognitive health of people with HIV infection.

Weight Management in Obese Pregnant Underserved African American Women
Funding Source: NIH U01 DK094416 (PI: Klein S, Haire-Joshu D, Cahill AG)

This project will test a novel diet and physical activity intervention to help obese socioeconomically disadvantaged African American women achieve healthily weight control during and after pregnancy and improve the metabolic and neurologic health of their offspring.

Past Research Studies

Safety and Efficacy of Aerobic Exercise Training in Barth Syndrome (Barth Syndrome Foundation)

Maternal Lipid Metabolism and Neonatal Heart Function in Diabetes Mellitus (Thrasher Research Fund)

Exercise and TZD Effects on Myocardial Substrate Metabolism and Function in HIV (NIH KDK074343A)