Cure MFM13 - The Podcast (previously Cure HSPB8)

In this episode, we look at the 2025 study by Tedesco et al., “Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models,” published in the European Journal of Human Genetics. The researchers revealed three new mutations in HSPB8 that result in a previously undescribed frameshift. These mutations create a longer C-terminal end of the protein wi...

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 a...

Episode 5 – Tedesco et al. 2023: Molecular Insights into HSPB8

In this episode, we dive into the 2023 study by Tedesco et al., titled "HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies," published in Autophagy. The research reveals how frameshift mutations in the HSPB8 gene lead to toxic protein aggregation and disrupt critical protein quality control systems. These mutations result ...

In this episode, we explore the key clinical features of HSPB8 Myopathy - an ultra-rare, autosomal dominant, progressive muscle-wasting condition. With fewer than 30 documented cases, awareness among clinicians is limited. We discuss when to suspect HSPB8 Myopathy, what signs to look for, and why genetic testing is essential for diagnosis.

If you're a healthcare professional working with patients experiencing progressive weakness, f...

How can a small heat shock protein cause big problems in muscle and nerve cells?

This episode explores HSPB8, a key player in chaperone-assisted selective autophagy (CASA), which helps clear misfolded and damaged proteins. What neuromuscular disorders are linked to HSPB8 mutations? How do specific variants — from missense to frameshift — give rise to distal hereditary motor neuropathy (dHMN), Charcot–Marie–Tooth disease type 2L (CM...

Episode 2 – Introduction to HSPB8 Myopathy: What You Need to Know

In this episode, we break down HSPB8 Myopathy, a rare genetic condition that causes progressive muscle weakness and degeneration. We’ll explore how mutations in the HSPB8 gene lead to the formation of rimmed vacuoles in muscle fibers, and why genetic testing is so important for diagnosing the condition. Whether you're affected by the condition, a clinician, or a resea...

Episode 1 – Our Mission, Our Vision, Our Voice

Welcome to the Cure HSPB8 Podcast. In this inaugural episode, we share how and why Cure HSPB8 came to be — and what drives our mission to improve the lives of everyone affected by HSPB8 Myopathy. You’ll hear about the challenges of diagnosing and treating this ultrarare disease, our strategic goals, and how we’re building a global community around hope, science, and advocacy. Whether yo...