Lectures and seminars MolMet Webinar: Jorge Ruas
Welcome to the MolMet Seminar with Professor Jorge Ruas, Department of Physiology and Pharmacology, Karolinska Institutet.
Title: "The E3 ligase HECTD1 is necessary for the maintenance of muscle sarcomere integrity and mitochondrial function"
Professor Jorge Ruas, Department of Physiology and Pharmacology, Karolinska Institutet
His research aims at identifying the molecules that mediate the beneficial effects of physical exercise on human health.
"The E3 ligase HECTD1 is necessary for the maintenance of muscle sarcomere integrity and mitochondrial function"
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Myopathies are skeletal muscle pathologies that affect muscle structure and/or metabolism. Here, we show that the E3 ligase HECTD1 is necessary to maintain both sarcomeric integrity and mitochondrial function. We have generated a skeletal muscle-specific HECTD1 knockout mouse model, which presents molecular and functional hallmarks of Nemaline Myopathy. These include muscle weakness, sarcomere collapse, and profound mitochondrial dysfunction. HECTD1 expression is reduced in several human myopathies, indicating it may be a useful disease biomarker or therapeutic target.