L’exercice en Contexte de Maladies Rares (Practicing Exercise in the Context of Rare Diseases) – Symposium at CSEP2024
Myogenesis Discussion Group Seminar | Decoding Muscle Loss: Cardiac Cachexia, tRNA Dysregulation, and Muscle Atrophy Pathways
Knowledge Exchange Session of the NMD4C Community of Practice for physiotherapists and occupational therapists
Spinal Muscular Atrophy Outcome Measures Workshop (English Language)
CPD-Accredited Webinar | Neuromuscular Mystery Case Rounds: A Distal Dilemma: Case Study of a Young Woman with Weakness in Hands and Feet
Myogenesis Discussion Group Seminar | Investigating the Role of Dysregulated Protein Translation in XLinked Myotubular Myopathy
The Myogenesis Discussion Group host a seminar series on skeletal, cardiac and smooth muscle research held virtually on the last Monday of each month.
Agenda:
Investigating the Role of Dysregulated Protein Translation in XLinked Myotubular Myopathy (XLMTM)
- Aamir Wahhab, Master student, Dowling lab | University of Toronto, Ontario, Canada
Speaker Information:
Aamir is a 2nd year Master’s student at the University of Toronto under the supervision of Dr. James Dowling. Having completed his undergraduate thesis project in Dr. Jerry Pelletier’s lab at McGill University, he developed a strong interest in the role of protein homeostasis in the development and maintenance of cellular function. He has carried this interest to his Master’s project, where he is studying the role of dysregulated protein translation in X-linked Myotubular Myopathy (XLMTM), a rare pediatric muscular disease. Key hallmarks of XLMTM include generalized muscle weakness and hypotonia, as well as smaller muscle fibers with widespread structural and functional abnormalities. Using a combination of murine and zebrafish disease models, he has shown that XLMTM is associated with dysregulation of protein translation in skeletal muscle, an abnormality likely caused by the aberrant localization of ribosomes. Furthermore, he has shown that small molecules that target protein homeostasis can significantly improve disease-related phenotypes in a zebrafish model of XLMTM. These findings represent a previously unexplored aspect of XLMTM disease pathogenesis and may lead to a novel therapeutic strategy for this devastating disease.
To register for this event:
- Contact event organizers Dr Matthew Rok, Dr Bella Xu, or Dr Vanessa Raileanu.
About the Myogenesis Discussion Group:
- The goal of this discussion group is to explore models of development, disease, and regeneration in muscle tissues, as well as potential therapeutic approaches. Within this, they aim to discuss novel techniques to quantitatively measure all aspects of myology and the challenges associated with developing representative models for these complex tissues.
Learn more at https://mbd.utoronto.ca/research/discussion-groups/, or Follow the Myogenesis Discussion Group on Twitter @MyogenesisGroup