Publications by authors named "Desiree Gerdes"
Mutations in RBM20 encoding the RNA-binding motif protein 20 (RBM20) are associated with an early onset and clinically severe forms of cardiomyopathies. Transcriptome analyses revealed RBM20 as an important regulator of cardiac alternative splicing. RBM20 mutations are especially localized in exons 9 and 11 including the highly conserved arginine and serine-rich domain (RS domain).
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- Desmin is a protein that helps keep muscles strong and healthy, and problems with its gene (DES) can lead to serious heart and muscle diseases.
- Two new versions of this gene were found, one causing issues in muscle formation and another with unclear effects.
- The first version, DES-p.A120D, creates problems in muscle cells and could be linked to heart rhythm issues, while the second version, DES-p.H326R, doesn’t show clear differences from normal.
Article Synopsis
- ARVC is a genetic heart condition that can lead to sudden death and heart failure, highlighting the importance of genetic testing for affected families.
- In a study of 22 ARVC patients, 43% had mutations in known desmosomal genes, and a new mutation in the desmin gene (p.N116S) was discovered in a patient with severe heart failure.
- This desmin mutation disrupts filament formation in heart and muscle tissues, suggesting desmin should be added to the list of genes tested in ARVC diagnostics.