Parameter
| Biomarker | SOD1 Mut (e.g., G93A) | Full name | Superoxide Dismutase 1 Mutants (e.g., G93A) | Molecular Type | Nucleic Acid (DNA) |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Risk Stratification, Etiological Confirmation, Treatment Selection |
| Disease | Amyotrophic Lateral Sclerosis | Disease Subtypes | / | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Gene Sequencing, Digital PCR) | ||
| Pathobiological Mechanisms | Mutations cause SOD1 misfolding, enhance oxidative stress, disrupt mitochondrial function, and promote dopaminergic neuron apoptosis. | ||||
| Clinical Availability Status | Clinically available (genetic counseling) | ||||
| Notes and Dynamics | A core screening biomarker for SOD1 antisense oligonucleotide drug (Tofersen) clinical trials; a 36% decrease in CSF SOD1 levels in mutants indicates treatment response. | ||||