Application of Biomarkers in Spinal Muscular Atrophy

Area of Science:

• Neurology
• Genetics
• Biomarker Research

Background:

• Spinal muscular atrophy (SMA) is a severe motor neuron disease with diverse clinical subtypes and treatment responses.
• Effective diagnosis, prognosis, and personalized therapies for SMA necessitate reliable biomarkers.

Purpose of the Study:

• To review current advances in biomarker discovery for SMA.
• To summarize the application of biomarkers in diagnosis, disease stratification, progression monitoring, and treatment response prediction.
• To highlight emerging technologies and biomarker-targeted therapies for SMA.

Main Methods:

• Comprehensive literature search using PubMed and Web of Science.
• Keywords included "spinal muscular atrophy", "biomarker", "single-cell omics", "nanopore and long-read sequencing", and "epigenetics".

Main Results:

• Identified established and emerging molecular and non-molecular biomarkers for SMA.
• Highlighted the role of biomarkers in early diagnosis, disease stratification, and monitoring.
• Discussed the application of advanced technologies like omics and sequencing in biomarker discovery.

Conclusions:

• Biomarkers are essential for improving SMA patient outcomes and treatment strategies.
• Emerging technologies offer new avenues for SMA biomarker discovery and application.
• Further research and biomarker-targeted therapies are needed to overcome SMA challenges.