Bulk mRNA sequencing of AC16 overexpressed with wild-type and truncated Arg150stop Des mutant
Desmin-related myopathy is caused by pathogenic variants in the desmin (DES) gene, which encodes a key intermediate filament protein essential for cytoskeletal integrity in muscle cells. To investigate transcriptomic alterations associated with a novel nonsense mutation, DES c.448C>T (p.Arg150stop), bulk RNA sequencing was performed using human cardiomyocyte AC16 cells.  AC16 cells were transiently transfected with constructs expressing either full-length wild-type desmin (Deswt) or the truncated mutant desmin (Destr; p.Arg150stop). Mutant-overexpressing cells were additionally treated with rapamycin (50 nM) for 6 hours prior to harvest. Cells were collected 48 hours post-transfection. Untransfected AC16 cells were included as controls.  Total RNA was isolated from all experimental conditions and subjected to bulk mRNA sequencing. The generated dataset enables comparative transcriptomic analysis between wild-type, mutant and rapamycin-treated mutant to assess gene expression changes associated with truncated desmin expression.
Desmin-related myopathy is caused by pathogenic variants in the desmin (DES) gene, which encodes a key intermediate filament protein essential for cytoskeletal integrity in muscle cells. To investigate transcriptomic alterations associated with a novel nonsense mutation, DES c.448C>T (p.Arg150stop), bulk RNA sequencing was performed using human cardiomyocyte AC16 cells.  AC16 cells were transiently transfected with constructs expressing either full-length wild-type desmin (Deswt) or the truncated mutant desmin (Destr; p.Arg150stop). Mutant-overexpressing cells were additionally treated with rapamycin (50 nM) for 6 hours prior to harvest. Cells were collected 48 hours post-transfection. Untransfected AC16 cells were included as controls.  Total RNA was isolated from all experimental conditions and subjected to bulk mRNA sequencing. The generated dataset enables comparative transcriptomic analysis between wild-type, mutant and rapamycin-treated mutant to assess gene expression changes associated with truncated desmin expression.
national institute of biomedical genomics