SNCA
Synuclein Alpha (α-Synuclein / SNCA Gene)
α-シヌクレイン（SNCA遺伝子・レビー小体病理）
1. Biological & Technical Mechanism
Alpha-synuclein (encoded by SNCA on chromosome 4q22.1) is an abundant 140-amino-acid protein localized primarily to presynaptic terminals, where it regulates synaptic vesicle trafficking and neurotransmitter release. Point mutations (e.g., A53T, A30P, E46K) and gene multiplications (duplications/triplications) of SNCA cause autosomal-dominant familial Parkinson's disease. In sporadic Parkinson's disease and Multiple System Atrophy (MSA), soluble monomeric α-synuclein converts into beta-sheet-rich oligomers and fibrils.
α-シヌクレイン（第4番染色体 4q22.1 の SNCA 遺伝子がコードする140アミノ酸のタンパク質）は、神経細胞のシナプス前終末に豊富に存在し、シナプス小胞の輸送やドパミン等の神経伝達物質放出の制御に関与しています。SNCA遺伝子の点変異（A53T, E46K等）や遺伝子重複（コピー数増加）は家族性パーキンソン病の原因となるほか、孤発性パーキンソン病においても可溶性モノマーがオリゴマーおよびアミロイド様線維へと凝集し、レビー小体（Lewy bodies）およびレビー神経突起を形成します。
2. Open Science & Clinical Trial Significance
Recent breakthroughs in CSF Alpha-Synuclein Seed Amplification Assays (αSyn-SAA / RT-QuIC) allow biochemical detection of synucleinopathy in prodromal cohorts (such as PPMI and MJFF pipelines). SNCA expression and splicing isoforms are heavily studied across single-cell atlases and DANDI electrophysiology models.
近年、髄液を用いたα-シヌクレイン凝集増幅法（αSyn-SAA / RT-QuIC）の実用化により、運動症状発症前の前駆期（レム睡眠行動障害等）からシヌクレイノパチーを生化学的に検出することが可能となりました。MJFF（マイケル・J・フォックス財団）の創薬パイプラインや単一細胞トランスクリプトーム解析でも中核標的となっています。
Related Neuroscience Terms & Standards
Multidomain kinase/GTPase protein; activating mutations (such as G2019S) are the most common cause of autosomal-dominant Parkinson's disease.
Comprehensive four-part clinical rating scale quantifying non-motor experiences, activities of daily living, motor examination (Part III), and motor complications in Parkinson's disease.
High-throughput transcriptomic profiling at individual cell or nucleus resolution, enabling identification of disease-associated microglia (DAM), astrocytes, and vulnerable neuronal subtypes.
Multimodal single-cell technique simultaneously capturing intrinsic electrophysiological properties, 3D axonal/dendritic morphology, and full-length transcriptome from the same neuron.
Open Datasets & Research Publications Related to SNCA
Dandiset 000026: Subthalamic Nucleus Local Field Potentials (LFP) and Beta-Band Dynamics in Parkinson’s Patients
High-density intraoperative and chronically implanted deep brain stimulation (DBS) electrode recordings during motor resting and movement states from 34 patients with idiopathic PD.
OpenNeuro ds003505: Dopaminergic Striato-Cortical Circuit Connectivity in Parkinson’s Disease during Motor Execution
This open-access 3T fMRI dataset evaluates striato-cortical circuit connectivity across 72 Parkinsonian patients and controls under levodopa ON vs. OFF states. Complete with behavioral logs, it offers foundational data for modeling dopaminergic network dynamics in motor execution.
Pharmacological Inhibition of mTORC1 Reduces Neural Death and Damage Volume After MCAO by Modulating Microglial Reactivity
Preclinical evaluation of novel mTORC1 inhibitors in neurodegenerative models demonstrating reduced neuroinflammation.
Continuous High-Frequency Smartwatch Sensor Telemetry Predicts Parkinson’s Motor Fluctuation Subtypes
A 24-month longitudinal cohort of 650 Parkinson’s patients monitored with wrist-worn IMU accelerometer arrays establishes automated machine learning scores correlating with MDS-UPDRS Part III subscores.
Hunger reconfigures a reward learning circuit into a memory competent mode
Internal states such as hunger dynamically reshape activity across circuits to support resource seeking. Neuromodulation provides a means of controlling such physiological properties of neurons, but how this flexibility regulates memory networks remains unclear. Here, we describe how hunger reconfig...
Focal drug uncaging for the precise control of endogenous nicotinic receptors in behaving mice
Nicotinic acetylcholine receptors shape diverse brain functions, including reward, aversion, and pain, but dissecting their roles in vivo requires drug delivery with spatiotemporal precision that conventional pharmacology cannot provide. Here we establish in vivo photopharmacology of endogenous nico...
Disclaimer: This encyclopedia entry is intended for academic neuroscience research and data science reference only, and does not constitute medical advice.