Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation

Objectives: The ultra-rare DES c.1289-2A>G mutation, resulting in a 48-base pair insertion in the Desmin tail domain, is associated with late-onset MFM1 (myofibrillar myopathy-1; OMIM number; 601419) and exhibits distinctive pathological features. Despite sustained expression and cytoskeletal integrity, muscle biopsies reveal dystrophic characteristics through an unidentified mechanism. A deeper understanding of the molecular mechanisms underlying Desmin-related MFM1 could enhance our perspective and comprehension of the disease’s pathophysiology. In this study, we aimed to investigate the pathological phenotype by assessing the myogenic potency of MyoD-induced patient-derived fibroblasts. Methods: Following the immortalization and myoconversion of unaffected and patient-derived fibroblast cells, we analyzed the myogenic potency of the mutant and control groups on day 5 post-differentiation. This analysis involved staining cells with MF20 antibody and DAPI after MyoD induction. Results: Employing six parameters to quantify extra nuclei and myotube properties, we unveil impaired myogenic differentiation in c.1289-2A>G mutant cells, as evidenced by a compromised fusion index and distinctive myogenic features. In summary, our preliminary findings indicate phenotypic abnormalities and suggest an association between the DES c.1289-2A>G mutation and delayed maturation and MFM in affected individuals. Conclusions: Our results indicate a significant involvement of Desmin in the myogenic maturation of muscle cells. Further investigation is required to understand the changes in the transcriptome during the myoconversion of patient-derived fibroblasts.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Assessment of myogenic potency in patient-derived fibroblasts with c.1289-2A>G Desmin mutation ; volume:49 ; number:2 ; year:2024 ; pages:244-251 ; extent:08 ; Turkish journal of biochemistry ; 49, Heft 2 (2024), 244-251 (gesamt 08)

Beteiligte, Orts- und Zeitangaben

• Urheber: Düz, Nilüfer ; Ünsal, Şeyda ; Eerdem-Özdamar, Sevim ; Dinçer, Pervin

Weitere Informationen

• DOI: 10.1515/tjb-2023-0264
• URN: urn:nbn:de:101:1-2404291708148.293405275708
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 14.08.2025, 10:48 MESZ