Whole Genome Expression Profiling of Semitendinosus Tendons from Children with Diplegic and Tetraplegic Cerebral Palsy.
Simona NemskaSimone SerioVeronica LarcherGiulia BeltrameNicola Marcello PortinaroMarie-Louise BangPublished in: Biomedicines (2023)
Cerebral palsy (CP) is the most common movement disorder in children, with a prevalence ranging from 1.5 to 4 per 1000 live births. CP is caused by a non-progressive lesion of the developing brain, leading to progressive alterations of the musculoskeletal system, including spasticity, often leading to the development of fixed contractures, necessitating tendon lengthening surgery. Total RNA-sequencing analysis was performed on semitendinosus tendons from diplegic and tetraplegic CP patients subjected to tendon lengthening surgery compared to control patients undergoing anterior cruciate ligament reconstructive surgery. Tetraplegic CP patients showed increased expression of genes implicated in collagen synthesis and extracellular matrix (ECM) turnover, while only minor changes were observed in diplegic CP patients. In addition, tendons from tetraplegic CP patients showed an enrichment for upregulated genes involved in vesicle-mediated transport and downregulated genes involved in cytokine and apoptotic signaling. Overall, our results indicate increased ECM turnover with increased net synthesis of collagen in tetraplegic CP patients without activation of inflammatory and apoptotic pathways, similar to observations in athletes where ECM remodeling results in increased tendon stiffness and tensile strength. Nevertheless, the resulting increased tendon stiffness is an important issue in clinical practice, where surgery is often required to restore joint mobility.
Keyphrases
- cerebral palsy
- end stage renal disease
- ejection fraction
- newly diagnosed
- extracellular matrix
- patients undergoing
- peritoneal dialysis
- multiple sclerosis
- spinal cord injury
- gene expression
- clinical practice
- genome wide
- poor prognosis
- atrial fibrillation
- patient reported outcomes
- binding protein
- functional connectivity
- white matter
- single cell
- rotator cuff
- data analysis
- gestational age
- botulinum toxin