Muscle Ageing and Oculopharyngeal Muscular Dystrophy (OPMD)

Oculopharyngeal muscular dystrophy (OPMD) is a rare, autosomal dominant, late-onset myopathy. OPMD patients develop muscle weakness from midlife onwards that gradually limit mobility and independence. OPMD is recognized by the specific pattern of muscle involvement initially causing ptosis and dysphagia. During disease progression most skeletal muscles are affected. Currently, there are no medical options to prevent or delay muscle weakness in OPMD.

OPMD is caused by a germline mutation in PABPN1, a regulator of RNA processing. The mutant PABPN1 aggregates, causing a depletion in levels of functional PABPN1. We investigate the molecular mechanisms that are associated with Reduced PABPN1 levels, and our ultimate goal is to develop a therapy for OPMD.

Our research

Our research combines clinical, translational and basic research using multidisciplinary approaches. We utilize and develop different models: cellular, organoid (muscle-on-a-chip) and mouse models. We combine various genome-wide research approaches to identify molecular pathways and biomarkers that are associated with muscle aging, muscle degeneration and OPMD pathology. Our studies on targeted pathways and genes are carried out using high-throughput imaging and image quantification technologies.

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Our research combines clinical, translational and basic research using multidisciplinary approaches. We utilize and develop different models: cellular, organoid (muscle-on-a-chip) and mouse models. We combine various genome-wide research approaches to identify molecular pathways and biomarkers that are associated with muscle aging, muscle degeneration and OPMD pathology. Our studies on targeted pathways and genes are carried out using high-throughput imaging and image quantification technologies.

  1. How a germline mutation leads to adult-onset disorder, what protects muscle weakness during early adulthood and what are the signal that leads to the late onset? Are those similar triggers of muscle aging?
  2. What are the regulators leading to a specific muscle involvement?
  3. What are RNA species are involved in this pathology and what is their role in muscle biology?

Key publications

Our team

Dr. Vered Raz
Principal Investigator / Associate Professor

Danish Khan
Researcher

Jack Z. Li
Researcher

Salma el Abdellaoui
Research technician

Milad Shademan
Research technician

Koen Schouten
Student assistant