EP 6: Advanced (for researchers): What is HSPB8 Myopathy, or Myofibrillar Myopathy type 13... скачать в хорошем качестве

EP 6: Advanced (for researchers): What is HSPB8 Myopathy, or Myofibrillar Myopathy type 13...

Episode 6 - What is Myofibrillar Myopathy type 13 (MFM13) with rimmed vacuoles? In this episode, we take a deep dive into the molecular mechanisms behind Myofibrillar Myopathy type 13 (MFM13) with Rimmed Vacuoles also known as HSPB8 Myopathy —a rare myofibrillar disease caused by frameshift mutations in the HSPB8 gene. Learn how HSPB8 dysfunction disrupts the CASA complex and impairs autophagy, leading to toxic protein aggregation and muscle fiber degeneration. We place HSPB8 Myopathy within the broader context of Myofibrillar Myopathies, discussing shared histological features like rimmed vacuoles and protein aggregates. The episode also explores HSPB8’s role in proteostasis across tissues, its involvement in other neurodegenerative conditions, and available research tools such as patient fibroblasts and iPSCs. Whether you're new to the field or already engaged in neuromuscular disease research, this is your go-to introduction to HSPB8 Myopathy.