Altered expression of proteins involved in metabolism in LGMDR1 muscle is lost in cell culture conditions.
Anabel RicoAndrea VallsGarazi GuembelzuMargarita AzpitarteAna AiastuiMónica ZufiriaOihane JakaAdolfo López de MunainAmets SáenzPublished in: Orphanet journal of rare diseases (2023)
Proteins implicated in metabolism are deregulated in LGMDR1 patients' muscle. Obtained results evidence the limited usefulness of primary myoblasts/myotubes for LGMDR1 gene expression and metabolic studies. However, since FRZB is the only gene that showed upregulation in all the analyzed cell types it is suggested its role as a key regulator of the pathophysiology of the LGMDR1 muscle fiber. The Wnt signaling pathway inactivation, secondary to FRZB upregulation, and GLUT5 overexpression may participate in the impaired adipogenesis in LGMD1R patients.
Keyphrases
- end stage renal disease
- signaling pathway
- gene expression
- poor prognosis
- chronic kidney disease
- cell proliferation
- ejection fraction
- newly diagnosed
- skeletal muscle
- prognostic factors
- stem cells
- peritoneal dialysis
- transcription factor
- dna methylation
- oxidative stress
- genome wide
- patient reported outcomes
- cell therapy
- insulin resistance
- induced apoptosis
- endoplasmic reticulum stress