Biomarkers, Genes & ProteinsNCBI Gene (6647)

SOD1

Superoxide Dismutase 1 (Cu/Zn-SOD1)

スーパーオキシドジスムターゼ1（SOD1遺伝子）

Antioxidant enzyme gene; gain-of-toxicity mutations in SOD1 account for ~15-20% of familial ALS and are targeted by the approved antisense oligonucleotide Tofersen.

Target CNS Conditions:ALS & Motor Neuron

1. Biological & Technical Mechanism

Superoxide dismutase 1 (SOD1) encodes a cytosolic copper/zinc-binding enzyme responsible for converting superoxide radicals into molecular oxygen and hydrogen peroxide. Over 180 missense mutations in SOD1 cause familial amyotrophic lateral sclerosis (ALS) primarily through a toxic gain-of-function mechanism involving protein misfolding, prion-like propagation, and motor neuron mitochondrial dysfunction.

日本語での専門解説 (Japanese Reference):

SOD1（銅/亜鉛スーパーオキシドジスムターゼ）は細胞質およびミトコンドリア膜間腔に存在し、スーパーオキシドラジカルを不均化する抗酸化酵素です。SOD1遺伝子のミスセンス変異は家族性ALSの主要原因の一つであり、酵素活性の喪失ではなく、変異SOD1タンパク質のミスフォールディングと運動ニューロンに対する毒性獲得（Toxic gain-of-function）によって神経変性を引き起こします。

2. Open Science & Clinical Trial Significance

SOD1-ALS served as the proof-of-concept for genetically targeted therapy in neurodegeneration: intrathecal administration of the SOD1-lowering antisense oligonucleotide (Tofersen) significantly reduces CSF SOD1 and plasma Neurofilament Light Chain (NfL) levels.

日本語での臨床・データ活用文脈 (Japanese Context):

SOD1変異ALSに対する髄腔内投与型アンチセンス核酸医薬（トフェルセン）の臨床試験において、血漿中ニューロフィラメント軽鎖（NfL）の低下が臨床的機能維持に先行するサロゲートエンドポイントとして機能することが実証され、神経変性疾患全体の治験デザインに大きな影響を与えました。

Related Neuroscience Terms & Standards

TDP-43 — TAR DNA-Binding Protein 43 (TARDBP)

Nuclear RNA/DNA-binding protein whose cytoplasmic mislocalization, phosphorylation, and loss of nuclear splicing function drive >95% of ALS cases and ~50% of FTD.

C9orf72 — Chromosome 9 Open Reading Frame 72 (GGGGCC Hexanucleotide Repeat)

Hexanucleotide repeat expansion (GGGGCC) in C9orf72 is the most common genetic cause of both familial ALS and familial frontotemporal dementia (FTD).

NfL — Neurofilament Light Chain (Plasma / CSF NfL)

Axonal cytoskeletal protein released into CSF and blood upon neuroaxonal injury; a cross-disease biomarker of neurodegeneration rate in ALS, MS, AD, and FTD.

ALSFRS-R — Revised Amyotrophic Lateral Sclerosis Functional Rating Scale

Gold-standard 48-point clinical rating scale assessing bulbar, fine motor, gross motor, and respiratory function in ALS clinical trials.

Open Datasets & Research Publications Related to SOD1

PreprintbioRxiv (Neuroscience)

Spontaneous slow waves index multiple dimensions of recovery in Disorders of Consciousness

Whether and how residual awareness is expressed in patients with Disorders of Consciousness (DoC) depends on the severity of brain damage and the transient functional state of the cortex at assessment. Classically, DoC are associated with electroencephalographic (EEG) slowing, marked by high-amplitu...

10/8/2026View Deep Brief →

PreprintbioRxiv (Neuroscience)

Immediate cortical responses to transcranial magnetic stimulation of the human motor leg area

Background: Immediate transcranial evoked potentials (iTEPs) are ultra-early electroencephalographic responses elicited by single-pulse transcranial magnetic stimulation (TMS) of the primary motor cortical hand area (M1-HAND). Their characteristic latency, waveform, and sensitivity to short-interval...

10/8/2026View Deep Brief →

PreprintmedRxiv (Neurology)

Not All Entropy Is Equal: Why Representation Matters for Biological Interpretation in Dementia EEG

ObjectiveTo examine what a dementia-associated electroencephalography (EEG) entropy difference permits us to infer about brain dynamics by testing its dependence on permutation-entropy (PE) representation. MethodsFour PE settings represented identical alpha-band data from 1,177 CAUEEG recordings. N...

9/29/2026View Deep Brief →

PreprintmedRxiv (Neurology)

Assessing respiratory rates and signs of air hunger using the PneumoRator sensor.

ObjectivesTo investigate whether the PneumoRator wearable sensor could accurately assess Respiratory Rate (RR) and signs of air hunger (SAH) compared with clinician-observed assessment in adults with and without breathing pattern disorder (BrPD). DesignA pilot cross-sectional observational study. ...

9/26/2026View Deep Brief →

PreprintbioRxiv (Neuroscience)

KCNQ2/3 Regulates Efferent Mediated Slow Excitation of Vestibular Afferents in Mammals

Investigating motor neuron excitability in amyotrophic lateral sclerosis (ALS), this research reveals how KCNQ potassium channel subunits regulate efferent-mediated slow excitation. These electrophysiological findings uncover critical protective mechanisms against motor neuron degeneration.

7/28/2026View Deep Brief →

PreprintbioRxiv (Neuroscience)

Evidence-Gated Plasticity and Context-Dependent Consolidation for Multi-Goal Learning in Spiking Neural Networks

Background / Introduction: Biologically inspired spiking neural networks offer a mechanistic framework for adaptive behavior, yet learning multiple goals remains challenging when synaptic updates for different targets interfere. We investigated whether multi-timescale plasticity and context-specific...

10/10/2026View Deep Brief →

Disclaimer: This encyclopedia entry is intended for academic neuroscience research and data science reference only, and does not constitute medical advice.

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