Prof. Durbeej on pathological mechanisms and potential therapies for LAMA2-CMD

Professor Dr Madeleine Durbeej of Lund University, Sweden provided an overview of existing research on the mechanisms of LAMA2-CMD and potential therapeutic targets.

Gaining a deep understanding of the biological mechanisms that cause symptoms in LAMA2-CMD is crucial to help identify new therapeutic strategies.

Key points of the presentation:

  • In LAMA2-CMD mice, many genes and proteins that are dysregulated are involved metabolism
  • Human LAMA2-CMD cells were also found to be metabolically impaired
  • Experiments in mice showed that different chemical compounds which target metabolism could improve some of the pathological characteristics of LAMA2-CMD

Prof. Durbeej’s research group are currently investigating new mice models with laminin deficiencies to further understand the biological mechanisms that cause symptoms in LAMA2-CMD patients.

This lecture was presented at the 2023 international conference on LAMA2-CMD in Barcelona.