The multifaceted role of kidney tubule mitochondrial dysfunction in kidney disease development

Katalin Susztak, MD, PhD
Professor
Perelmann School of Medicine
University of Pennsylvania
Philadelphie, PA, USA

This conference is hosted by Marie Trudel, PhD. This conference is part of the 2023-2024 IRCM conference calendar.

In person: 
IRCM Auditorium
110, avenue des Pins O, H2W 1R7 Montreal

About this conference
More than 800 million people suffer from kidney disease. Genetic studies and follow-up animal models and cell biological experiments indicate the key role of proximal tubule metabolism. Kidneys have one of the highest mitochondrial densities. Mitochondrial biogenesis, mitochondrial fusion and fission, and mitochondrial recycling, such as mitophagy are critical for proper mitochondrial function. Mitochondrial dysfunction can lead to an energetic crisis, orchestrate different types of cell death (apoptosis, necroptosis, pyroptosis, and ferroptosis), and influence cellular calcium levels and redox status. Collectively, mitochondrial defects in renal tubules contribute to epithelial atrophy, inflammation, or cell death, orchestrating kidney disease development

About Katalin Susztak
Katalin Susztak, MD, PhD is a Professor of Medicine and Genetics at the University of Pennsylvania, she is a physician scientist who aims to understand the genetics and molecular mechanism of kidney disease development, with the ultimate goal of finding new, more effective therapies.

More than 30 million Americans suffer from kidney disease, a condition that disproportionately affects Black individuals. Dr. Katalin Susztak has made fundamental discoveries in defining the mechanisms of kidney disease with the potential to develop new, targeted therapies. She not only mapped the genetic architecture of kidney function, but also pioneered kidney tissue banking and the integration of single cell omics datasets for a deeper mechanistic understanding. Combining human genetics with state-of-the-art transcriptomic, epigenomic and single cell analyses, Dr. Susztak has identified nearly a dozen new kidney disease risk genes and established the previously unappreciated role of proximal tubule cells in kidney function regulation. She was the first to demonstrate the causal role of APOL1 risk variants, explaining the higher risk of kidney disease, sepsis and COVID severity specifically in Black people. She delineated cellular pathways of APOL1 toxicity enabling the development of targeted therapeutics to address these significant health disparities. Dr. Susztak has generously made her comprehensive omics datasets available to the public. As co-director of the Penn/CHOP Kidney Innovation Center and founder of the Transformative Research In Diabetic Nephropathy study, a unique academic/industry partnership she is working to identify and test novel therapies that can improve the lives of those with kidney disease and reduce health inequalities.     

Professor Susztak is member of the American Society of Clinical Investigators, American Associations of Physicians and recipient of the Osler Award of the University of Pennsylvania, Young Investigator Award of the American Society of Nephrology and Richards Award of the International Society of Nephrology.

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