Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples.
Megi MeneriElena AbatiDelia GagliardiIrene FaravelliValeria ParenteAntonia RattiFederico VerdeNicola TicozziGiacomo P ComiLinda OttoboniStefania CortiPublished in: Biomedicines (2023)
Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations or deletions in SMN1 that lead to progressive death of alpha motor neurons, ultimately leading to severe muscle weakness and atrophy, as well as premature death in the absence of treatment. Recent approval of SMN-increasing medications as SMA therapy has altered the natural course of the disease. Thus, accurate biomarkers are needed to predict SMA severity, prognosis, drug response, and overall treatment efficacy. This article reviews novel non-targeted omics strategies that could become useful clinical tools for patients with SMA. Proteomics and metabolomics can provide insights into molecular events underlying disease progression and treatment response. High-throughput omics data have shown that untreated SMA patients have different profiles than controls. In addition, patients who clinically improved after treatment have a different profile than those who did not. These results provide a glimpse on potential markers that could assist in identifying therapy responders, in tracing the course of the disease, and in predicting its outcome. These studies have been restricted by the limited number of patients, but the approaches are feasible and can unravel severity-specific neuro-proteomic and metabolic SMA signatures.
Keyphrases
- end stage renal disease
- high throughput
- newly diagnosed
- ejection fraction
- mass spectrometry
- single cell
- prognostic factors
- multiple sclerosis
- mesenchymal stem cells
- high resolution
- peritoneal dialysis
- dna methylation
- randomized controlled trial
- genome wide
- drug delivery
- early onset
- artificial intelligence
- bone marrow
- cell therapy