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

Cure MFM13 - The Podcast (previously Cure HSPB8)

Cure MFM13 Org

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

MAY 20, 202513 MIN
Cure MFM13 - The Podcast (previously Cure HSPB8)

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

MAY 20, 202513 MIN

Description

<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>