Posted on | CategoriesNeurology / School of Medicine | PI: Stefan M. Pulst, MD

Identification of GGC Expansion as a Basis for SCA4 Movement Disorder

Spinocerebellar ataxia type 4 (SCA4) is a rare movement disorder whose symptoms begin in adolescence or adulthood, usually with difficulty walking and balancing. Affected individuals may go on to experience muscle weakness, lose sensation in their hands and feet, and lose their reflexes... Continue reading → Identification of GGC Expansion as a Basis for SCA4 Movement Disorder
Posted on | CategoriesNeurobiology / School of Medicine | PI: Jason Shepherd, PhD

PNMA2 Forms Immunogenic Non-Enveloped Virus-Like Capsids Associated with Paraneoplastic Neurological Syndrome

For people with a rare cancer-associated condition called paraneoplastic syndrome, sudden memory loss, loss of coordination, or other neurological symptoms are often the first sign that a tumor is growing somewhere in the body. The symptoms are caused by the immune system’s response to it. It turns out that some tumors produce brain proteins... Continue reading → PNMA2 Forms Immunogenic Non-Enveloped Virus-Like Capsids Associated with Paraneoplastic Neurological Syndrome
Posted on | CategoriesCardiovascular | PI: TingTing Hong, MD, PhD & Robin M. Shaw, MD, PhD

Regulation and Remodeling of Membrane Microdomains of Cardiomyocytes During Heart Failure Progression

At U of U Health, scientists are learning how the molecular organization of heart cells changes as heart failure progresses, and using that knowledge to pioneer potential gene therapy for heart disease. Continue reading → Regulation and Remodeling of Membrane Microdomains of Cardiomyocytes During Heart Failure Progression
Posted on | CategoriesBiochemistry / College of Health / Nutrition & Integrative Physiology / School of Medicine | PI: Jared P. Rutter, PhD & Kevin Hicks, PhD

Finding Inspiration for Drug Development in Metabolic Regulators

The metabolic pathways that shape how our bodies use nutrients and energy are under constant adjustment, with metabolites pay a key role in managing their function and activity. There are thousands of metabolites inside our cells, and surprisingly little is known about how most of them interact with other cellular components, even though when these interactions with proteins are disrupted, it can leave us more vulnerable to disease. Continue reading → Finding Inspiration for Drug Development in Metabolic Regulators
Posted on | CategoriesBiochemistry / School of Medicine | PI: Minna Roh-Johnson, PhD

Transferred Mitochondria Accumulate Reactive Oxygen Species, Promoting Proliferation

Cancer cells don’t act on their own. Their behavior is influenced by neighboring cells, which sometimes help them grow and spread. For instance, immune cells called macrophages patrol the body, engulfing and destroying potential threats. But when they interact with tumors, they can often produce signals that drive the disease. Continue reading → Transferred Mitochondria Accumulate Reactive Oxygen Species, Promoting Proliferation
Posted on | CategoriesOphthalmology & Visual Sciences / School of Medicine | PI: Frans Vinberg, PhD

Seeing the Light

Most of the world’s leading causes of blindness are conditions that damage the eye’s retina. Diabetes, genetic conditions, and aging can all cause the retina to deteriorate, leading to vision loss for millions of people. Because human eyes are so different from the eyes of mice and other animal models, these conditions have been difficult to study. But scientists at U of U Health have opened the door to studying the function of both healthy and diseased retinas in human eyes donated after death. Continue reading → Seeing the Light
Posted on | CategoriesBiomedical Informatics / Human Genetics / Internal Medicine | PI: Mark Yandell, PhD , Martin Tristani-Firouzi, MD & Karen Eilbeck, PhD

Teasing Apart Effects of Comorbid Conditions on Cardiovascular Health

Understanding the complex clinical variables that drive cardiovascular health outcomes in patients with multiple conditions poses a major challenge for personalized medicine. Continue reading → Teasing Apart Effects of Comorbid Conditions on Cardiovascular Health
Posted on | CategoriesMolecular Pharmaceutics | PI: Makoto Kondo, PhD

Engineered Human Juvenile Chondrocyte Sheets Safely Repair Damaged Cartilage

The body cannot heal damage to cartilage, and such defects eventually progress to joint osteoarthritis, impacting more than 5.6 million Americans. Current approaches to repairing cartilage have issues in the quality of the repaired tissue, potential treatment variability, costs, and long wait times for patients. Continue reading → Engineered Human Juvenile Chondrocyte Sheets Safely Repair Damaged Cartilage
Posted on | CategoriesBiochemistry / Human Genetics | PI: Wesley I. Sundquist, PhD & Nels C. Elde, PhD

A Protein that Blocks Virus Budding

A collaboration between the labs of University of Utah Health researchers Nels Elde, PhD, and Wesley Sundquist, PhD, showed that some mammals contain duplicated and shortened genes for a key ESCRT protein. The resulting “retroCHMP3” proteins block the release of HIV and other enveloped viruses. Continue reading → A Protein that Blocks Virus Budding
Posted on | CategoriesNutrition & Integrative Physiology | PI: J. David Symons, PhD & Sihem Boudina, PhD

Late-in-life Exercise Training Increases Intracellular Protein Recycling in the Heart

Heart cells (known as myocytes) work hard. Over a human lifetime, the heart beats approximately 2.5 billion times. As myocytes age, and especially in the presence of disease, they accumulate damaged intracellular components such as misfolded proteins. This build-up of damaged cellular material can cause cardiac dysfunction, diminish quality of life, and lead to premature death. Continue reading → Late-in-life Exercise Training Increases Intracellular Protein Recycling in the Heart
Posted on | CategoriesCardiovascular / Internal Medicine | PI: Stavros G. Drakos, MD, PhD

Myocardial Recovery in Chronic Heart Failure

Chronic heart failure is a disease with poor prognosis and currently is a global epidemic. University of Utah Health investigator Stavros George Drakos, MD, and colleagues analyzed human heart tissue and produced evidence refuting the widely held notion that prolonged off-loading of the failing heart induced by cardiac assist devices results in disuse atrophy that further deteriorates heart function. Continue reading → Myocardial Recovery in Chronic Heart Failure
Posted on | CategoriesBiochemistry | PI: Wesley I. Sundquist, PhD

Reconstituting HIV Replication in a Test Tube

Reverse transcription and integration are key events in retrovirus replication and are also targets of successful anti-HIV therapies. Reverse transcription creates a double-stranded DNA copy of the viral RNA genome, and integration archives that copy within the genome of the infected cell. However, studies of the mechanisms underlying these steps of the viral life cycle remain challenging because these processes are performed by viral core particles located deep within the infected cell cytoplasm and nucleus. Continue reading → Reconstituting HIV Replication in a Test Tube
Posted on | CategoriesBiochemistry | PI: Wesley I. Sundquist, PhD

A Potent, Long-lasting HIV Capsid Inhibitor

Reverse transcription and integration are key events in retrovirus replication and are also targets of successful anti-HIV therapies. Reverse transcription creates a double-stranded DNA copy of the viral RNA genome, and integration archives that copy within the genome of the infected cell. However, studies of the mechanisms underlying these steps of the viral life cycle remain challenging because these processes are performed by viral core particles located deep within the infected cell cytoplasm and nucleus. Continue reading → A Potent, Long-lasting HIV Capsid Inhibitor
Posted on | CategoriesImmunology, Inflammation, Infectious Disease / Internal Medicine | PI: Sankar Swaminathan, MD & Dinesh Verma, PhD

Unexpected Antiviral Activity of Spironolactone

Epstein–Barr virus (EBV) is a human herpesvirus associated with clinical infections and several types of malignancies. Sankar Swaminathan, MD, and colleagues showed that a hypertension/heart failure drug, spironolactone, also has anti-EBV effects. Continue reading → Unexpected Antiviral Activity of Spironolactone
Posted on | CategoriesCardiovascular / Internal Medicine | PI: Robin M. Shaw, MD, PhD

New Class of Therapy for Chronic Heart Failure

The lab directed by Robin Shaw (MD, PhD) and Nora Eccles Harrison Cardiovascular Research & Training Institute (CVRTI) Investigators have identified an architectural protein (cBIN1) of heart muscle cells that organizes the intracellular signalizing network responsible for heart muscle contraction and relaxation. Continue reading → New Class of Therapy for Chronic Heart Failure
Posted on | CategoriesDiabetes and Metabolism / Internal Medicine | PI: Elizabeth Leibold, PhD

How Iron Deficiency Impairs Pancreatic β-Cell Function

Research in the lab of Elizabeth Leibold, PhD, showed that in mice with iron deficiency, proinsulin processing to mature insulin was impaired, resulting in reduced levels of circulating and glucose intolerance. Mice treated with iron restored insulin to normal levels and eliminated the glucose intolerance. Continue reading → How Iron Deficiency Impairs Pancreatic β-Cell Function
Posted on | CategoriesGenomics / Human Genetics | PI: Christopher T. Gregg, PhD

Gene Expression and Health Risks

An important area of research involves learning how gene expression influences health and disease risks. The parts of the genome that regulate gene expression are cis-regulatory elements. Gregg and colleagues took an unusual approach to discover these cis-regulatory elements by analyzing the genomes of species that evolved disease resistance “superpowers”. Continue reading → Gene Expression and Health Risks
Posted on | CategoriesBioinformatics / Biomedical Informatics / Pediatrics | PI: Kensaku Kawamoto, MD, PhD & Carole H. Stipelman, MD

An EHR Clinical Support App for Monitoring Bilirubin Levels

Electronic health records (EHR) are a rich source of clinical and research data, but clinicians and researchers often cannot access this information efficiently. The Department of Biomedical Informatics has developed the ReImagineEHR initiative to improve the functionality of electronic health record systems. Continue reading → An EHR Clinical Support App for Monitoring Bilirubin Levels
Posted on | CategoriesGenomics / Human Genetics | PI: Lynn B. Jorde, PhD

Analyzing Human Pedigrees to Advance Genetics and Health

Well curated human pedigrees like the iconic pedigrees maintained by the Centre d’Etude du Polymorphism Humain (CEPH) provide an invaluable resource for fundamental discoveries in human genetics and health. The CEPH collection includes families collected by R. White (Utah), J. Dausset (French), J. Gusella (Venezuelan), and J. Egeland (Amish). Continue reading → Analyzing Human Pedigrees to Advance Genetics and Health
Posted on | CategoriesBiochemistry / Fundamental Biology | PI: Christopher P. Hill, DPhil & Peter Shen, PhD

Structures and Mechanisms of Protein Remodeling Machines

When a cellular protein has done its job or lost its utility, it should be removed, recycled, or remodeled. These tasks are performed by members of the ubiquitous family of AAA ATPases (ATPases associated with diverse cellular activities) that convert the energy of ATP hydrolysis into mechanical forces that can unfold protein aggregates, degrade unwanted proteins, and remodel protein complexes. Continue reading → Structures and Mechanisms of Protein Remodeling Machines
Posted on | CategoriesBioinformatics / College of Nursing | PI: Katherine Sward, PhD, RN

Pinpointing Environmental Sources of Pediatric Asthma

Identifying the sources that trigger pediatric asthma is critical for successful therapeutic interventions. The University scientists collaborated with the families to develop a biomedical informatics platform to crowdsource and link air quality data with personal health monitoring data and other data resources to pinpoint environmental causes of patient symptoms. Continue reading → Pinpointing Environmental Sources of Pediatric Asthma
Posted on | CategoriesDiabetes and Metabolism / Pathology | PI: June L. Round, PhD

Commensal Microbes That Help Prevent Metabolic Disease

Our intestines are colonized by a vast consortium of bacteria, viruses, and fungi that we now know have essential influences on gut health. Research in the Round lab has recently shown that intestinal antibody responses select for specific organisms within the gut that prevent metabolic disease by limiting fat absorption within the intestine. Continue reading → Commensal Microbes That Help Prevent Metabolic Disease
Posted on | CategoriesPhysical Medicine & Rehabilitation / School of Medicine | PI: Jacob George, PhD

Prosthetic Limbs with Neural Connections

For the more than two million people in the United States who have lost a limb, prostheses can restore some function, but never really replace a missing arm or leg. U scientists have been working toward better prosthetic limbs for decades, with the development of technology that connects an artificial limb directly to the user’s nervous system so they can control its movements with their thoughts. Continue reading → Prosthetic Limbs with Neural Connections