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.