The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization and Causes Sudden Cardiac Death Running title: Brodehl et al.; Characterization of a novel desmin mutation
نویسندگان
چکیده
Andreas Brodehl, PhD*; Mareike Dieding, MSc*; Bärbel Klauke, PhD; Eric Dec, MD; Shrestha Madaan, MD; Taosheng Huang, MD, PhD; John Gargus, MD, PhD; Azra Fatima, PhD; Tomo Šaric, MD, PhD; Hamdin Cakar, PhD; Volker Walhorn, PhD; Katja Tönsing, PhD; Tim Skrzipczyk, MSc; Ramona Cebulla, TN; Désirée Gerdes, TN; Uwe Schulz, MD; Jan Gummert, MD; Jesper Hastrup Svendsen, MD, DMSc; Morten Salling Olesen, PhD; Dario Anselmetti, PhD; Alex Hørby Christensen, MD, PhD; Virginia Kimonis, MD; Hendrik Milting, PhD
منابع مشابه
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
BACKGROUND The intermediate filament protein desmin is encoded by the gene DES and contributes to the mechanical stabilization of the striated muscle sarcomere and cell contacts within the cardiac intercalated disk. DES mutations cause severe skeletal and cardiac muscle diseases with heterogeneous phenotypes. Recently, DES mutations were also found in patients with arrhythmogenic right ventricu...
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Mutations in the DES gene coding for the intermediate filament protein desmin may cause skeletal and cardiac myopathies, which are frequently characterized by cytoplasmic aggregates of desmin and associated proteins at the cellular level. By atomic force microscopy, we demonstrated filament formation defects of desmin mutants, associated with arrhythmogenic right ventricular cardiomyopathy. To ...
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In some myopathies of distal onset, the intermediate filament desmin is abnormally accumulated in skeletal and cardiac muscle. We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy. The L345P desmin missense mutation occurs in a large, six generation Ashkenazi Jewish family. The mutation is located in an evolutionarily highly conse...
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