Cure HSPB8 - The Podcast | Podcast Guru

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Episodes

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Welcome to the Cure HSPB8 Podcast, a series dedicated to raising awareness and sharing critical information about HSPB8 Myopathy. This podcast is designed for individuals and families affected by this rare neuromuscular condition, as well as clinicians and researchers working to make a difference.

In each episode, we focus on one key topic related to HSPB8 Myopathy — whether it’s the latest advancements in research, genetic testing, diagnosis, management strategies, or insights from the rare disease space. We’ll discuss recent publications, dive deep into important clinical topics, and explore the latest findings in the field. Episodes will sometimes feature journal club discussions, where we summarize and analyze key publications in the HSPB8 space, helping to make complex research more accessible.

Our goal is to inform, connect, and empower the HSPB8 community, while providing resources that will support families, clinicians, and researchers alike. Together, we can build a stronger, more informed community as we work towards a life free from HSPB8 Myopathy.

This podcast is generated with the support of AI, NotebookLM. We do everything in our power to ensure accuracy and clarity, but we welcome your feedback. If you spot anything that needs correction or want to contribute, please reach out to us at [email protected].

Recent Episodes

EP 7: Tedesco et al. 2025: How New Frameshifts Change HSPB8 Disease

SEP 10, 2025

EP 7: Tedesco et al. 2025: How New Frameshifts Change HSPB8 Disease

<p>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 with a different amino acid sequence than those described before. This structural change is linked to an even more severe disease picture: earlier muscle weakness, sometimes combined with reduced involvement, breathing difficulties, and even cardiac problems. The study not only presents detailed case reports but also builds on Tedesco et al., 2023 (Episode 5), which showed how elongated C-terminal mutations disrupt the cell’s clean-up system. In the 2025 work, scientists demonstrate that these new frameshifts also cause toxic aggregation of CASA complex proteins, further impairing the cell’s ability to remove damaged proteins. These results highlight the vulnerability of the HSPB8 gene’s last exon and broaden both the molecular and clinical understanding of HSPB8-related myopathies and neuromyopathies</p>

17 MIN

EP 6: Advanced (for researchers): What is HSPB8 Myopathy, or Myofibrillar Myopathy type 13 (MFM13) with rimmed vacuoles?

AUG 21, 2025

EP 6: Advanced (for researchers): What is HSPB8 Myopathy, or Myofibrillar Myopathy type 13 (MFM13) with rimmed vacuoles?

<p>Episode 6 - What is Myofibrillar Myopathy type 13 (MFM13) with rimmed vacuoles?</p><p>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.</p>

14 MIN

EP 5: Journal Club: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

JUL 3, 2025

EP 5: Journal Club: HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

<p><strong>Episode 5 – Tedesco et al. 2023: Molecular Insights into HSPB8</strong></p><p>In this episode, we dive into the 2023 study by Tedesco et al., titled <em>"HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies,"</em> published in <em>Autophagy</em>. 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 an elongated C-terminal end of the HSPB8 protein, promoting aggregates that sequester CASA complex components like BAG3 and autophagy markers such as p62—ultimately impairing the cell’s ability to clear damaged proteins. We explore how this toxic mechanism contributes to muscle fiber damage. A must-listen for patients, families, and professionals seeking a clearer understanding of the disease and the importance of genetic testing.</p>

13 MIN

EP 4: When to suspect HSPB8 Myopathy (MFM13)? Intro for clinicians

JUN 4, 2025

EP 4: When to suspect HSPB8 Myopathy (MFM13)? Intro for clinicians

<p>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.</p><p>If you're a healthcare professional working with patients experiencing progressive weakness, frequent falls, foot drop, or balance issues, especially in early to mid-adulthood, this episode is for you.</p>

9 MIN

EP 3: Journal club: The Spectrum of Small Heat Shock Protein B8 (HSPB8) - Associated Neuromuscular Disorders

MAY 20, 2025

EP 3: Journal club: The Spectrum of Small Heat Shock Protein B8 (HSPB8) - Associated Neuromuscular Disorders

<p><strong>How can a small heat shock protein cause big problems in muscle and nerve cells?</strong> </p><p>This episode explores <strong>HSPB8</strong>, a key player in chaperone-assisted selective autophagy (CASA), which helps clear misfolded and damaged proteins. <strong>What neuromuscular disorders are linked to HSPB8 mutations?</strong> How do specific variants — from missense to frameshift — give rise to <strong>distal hereditary motor neuropathy (dHMN), Charcot–Marie–Tooth disease type 2L (CMT2L), and myopathy with rimmed vacuoles</strong>? We break down the <strong>toxic gain-of-function mechanisms</strong> driving disease and highlight emerging therapeutic strategies, from small molecules to RNA-based approaches. Based on the latest review by Professor <strong>Hebatallah R. Rashed, Dr Samir R. Nath, and Professor Margherita Milone</strong> in the <em>International Journal of Molecular Sciences</em>, this episode brings you cutting-edge insights into HSPB8 biology and pathogenesis.</p>

13 MIN