Project description:The cTnT-DK210 DCM mice showed ABRA protein deficiency, sarcomeric disruption, and compromised heart contractility. Heart-specific expression of ABRA in cTnT-DK210 mice restored sarcomeric structures, reversed the disease progress, and rescued the DCM phenotypes. ABRA deficiency and compromised downstream serum response factor-regulated muscle gene expression play a key role in familial DCM caused by the cTnT-DK210 mutation. ABRA is a good therapeutic gene for cTnT-DK210-induced DCM and could be translated to other cTnT mutations-induced familial DCM.
Project description:We used a novel approach to study the acute effect of two frequencies of stimulation (20 Hz and 5 Hz; high and low force, respectively) on gene regulation in people with chronic paralysis. Three hours after the completion of the electrical stimulation protocol (5 Hz or 20 Hz), we sampled the vastus lateralis muscle and examined genes involved with metabolic transcription, glycolysis, oxidative phosphorylation, and mitochondria remodelling. We discovered that the 5 Hz stimulation, despite generating a lower overall force, induced a 5-6 fold increase (p<0.05) in key metabolic transcription factors including PGC-1?, NR4A3, and ABRA. Neither protocol showed a robust regulation of genes for glycolysis, oxidative phosphorylation, and mitochondria remodelling. We analyzed skeletal muscle using the Affymetrix Human Exon 1.0 ST platform. Array data was processed by Partek Genomic Suites.
Project description:This dataset contains Xdrop followed by oxford nanopore long read sequencing performed in target tRNA gene deletion clones in HAP1 (t72) and HepG2 (t15). By applying de novo assembly based approach to Xdrop-LRS data, we identified Cas9-induced on-target genomic alteration.
