関連する実験動画
Updated: Jul 15, 2026

06:08
Evaluating the Anti-depression Effect of Xiaoyaosan on Chronically-stressed Mice
Published on: January 7, 2019
甲状腺ホルモントランスポーターの変異と重度のX関連精神運動遅延との関連
Edith C H Friesema1, Annette Grueters, Heike Biebermann
1Department of Internal Medicine, Erasmus MC, Rotterdam, Netherlands.
Lancet (London, England)
|October 19, 2004
まとめ
モノカルボキシラートトランスポーター8 (MCT8) 遺伝子の変異は,X関連精神運動遅延を引き起こす. この欠陥は,甲状腺ホルモン (T3) のニューロンへの侵入を阻害し,脳の発達と代謝に影響を及ぼします.
科学分野:
- 遺伝学 遺伝学とは
- エンドクリノロジー エンドクリノロジー
- 神経科学は神経科学である.
背景:
- モノカルボキシラートトランスポーター8 (MCT8) は,甲状腺ホルモン輸送に不可欠です.
- MCT8遺伝子はX染色体にある.
研究 の 目的:
- 重度の精神運動遅延におけるMCT8変異の役割を調査する.
- MCT8の欠陥が血清トリヨドチロニン (T3) のレベルを上昇させるかどうかを判断する.
主な方法:
- 精神運動遅延の無縁の5人の男の子のMCT8コード配列の分析.
- ポリメラーゼ連鎖反応 (PCR) を利用し,MCT8エクソンの直接シーケンシングを行いました.
- 特定された遺伝子の消去と誤った意味の変異.
主要な成果:
- 2人の患者で遺伝子消去が確認された (2.4kbと24kb).
- 3人の患者で誤認変異 (Ala150Val,Arg171stop,Leu397Pro) が検出されました.
- 重度の精神運動遅延と高血清T3濃度が観察されました.
結論:
- 新種のX関連精神運動遅延症候群は,MCT8の欠陥と関連しています.
- 欠陥MCT8輸送による神経細胞へのT3の侵入障害は,甲状腺ホルモンの作用と代謝を妨げます.
- MCT8変異は,神経発達障害の重要な原因である.
関連する概念動画
G-protein Coupled Receptors
G-protein coupled receptors are ligand binding receptors that indirectly affect changes in the cell. The actual receptor is a single polypeptide that transverses the cell membrane seven times creating intracellular and extracellular loops. The extracellular loops create a ligand specific pocket which binds to neurotransmitters or hormones. The intracellular loops holds onto the G-protein.
Drugs Acting on Autonomic Ganglia: Stimulants
Ganglionic stimulants activate NM nicotinic receptors in autonomic ganglia, falling into two categories: nicotine mimetics [e.g., lobeline, dimethylpiperazine, tetramethylammonium] and muscarinic receptor agonists [e.g., muscarine, methacholine]. The first category's action is rapid and blocked by nicotinic receptor antagonists, while the second category's action is delayed and blocked by atropine-like agents. Nicotine, an alkaloid, affects the heart rate by stimulating sympathetic or...
Drugs Affecting Neurotransmitter Release or Uptake
Certain drugs can affect how neurotransmitters called catecholamines, are released or taken back up in the adrenergic neuron. They can have different effects on the body's sympathetic transmission. Reserpine, a natural compound found in the Rauwolfia shrub, blocks a transporter called vesicular monoamine transporter (VMAT), which leads to a buildup of catecholamines in the cell and reduces sympathetic transmission. Another drug called guanethidine works in multiple ways, including blocking...
Anxiolytic Drugs: Overview
Anxiolytic drugs are vital in managing anxiety disorders by effectively alleviating symptoms such as excessive fear, tachycardia, and tremors. There are several classes of anxiolytic medications, each with unique mechanisms of action and potential side effects.
Primary Types of Anxiolytic Drugs
1. Benzodiazepines:
Benzodiazepines bind to the GABA-A receptor in the brain, enhancing GABA's interaction. This action reduces neurotransmission, effectively blocking anxiety-associated limbic circuitry.
Primary Types of Anxiolytic Drugs
1. Benzodiazepines:
Benzodiazepines bind to the GABA-A receptor in the brain, enhancing GABA's interaction. This action reduces neurotransmission, effectively blocking anxiety-associated limbic circuitry.
Cushing Syndrome II: Pathophysiology
Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...
Alterations in Muscle Tone lll
Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...

