由于广泛存在的辅酶Q10缺乏,因因子反应的多重呼吸链功能障碍
A Rötig1, E L Appelkvist, V Geromel
1Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants-Malades, Paris, France.
Lancet (London, England)
|September 6, 2000
概括
辅酶Q10缺乏,是一种罕见的线粒体疾病,导致严重的神经和脏问题. 早期诊断和口服乌比德卡伦 (辅酶Q10) 的治疗显著改善了患者的治疗结果.
科学领域:
- 生物化学 生物化学
- 线粒体医学 线粒体医学
- 遗传学 是一个遗传学.
背景情况:
- 呼吸链缺陷是一组多样化的严重,往往无法治疗的遗传代谢障碍.
- 辅酶Q10 (乌比金) 缺乏症是一种特定的子类,需要及时和精确的诊断才能有效管理.
研究的目的:
- 为了研究患有严重脑肌病和功能衰竭的兄弟姐妹的呼吸链功能.
- 诊断和描述辅酶Q10缺乏作为潜在的潜在原因.
- 为了评估口服ubidecarenone在受影响个体的治疗疗效.
主要方法:
- 在肌肉活检,淋巴细胞和纤维细胞中评估呼吸链酶活性.
- 使用高性能液体染色学和放射标记量化细胞辅酶Q10水平.
- 在3年的口服类治疗期间监测临床状态和生化参数.
主要成果:
- 在多种组织类型中确认了依赖于辅酶Q10的呼吸链酶的缺乏.
- 证明无法检测的辅酶Q10水平,支持广泛的缺乏.
- 观察到患者状况和酶活性在口服乌比德卡伦治疗后显著改善.
结论:
- 多重因响应性呼吸链酶缺乏症是一种可治疗的疾病.
- 口服ubidecarenone的使用提供了一个成功的治疗策略.
- 强调在相关的临床报告中考虑和诊断辅酶Q10缺乏的重要性.
相关概念视频
The Electron Transport Chain
The electron transport chain or oxidative phosphorylation is an exothermic process in which free energy released during electron transfer reactions is coupled to ATP synthesis. This process is a significant source of energy in aerobic cells, and therefore inhibitors of the electron transport chain can be detrimental to the cell's metabolic processes.
Inhibitors of the electron transport chain
Rotenone, a widely used pesticide, prevents electron transfer from Fe-S cluster to ubiquinone or Q in...
Inhibitors of the electron transport chain
Rotenone, a widely used pesticide, prevents electron transfer from Fe-S cluster to ubiquinone or Q in...
The Supercomplexes in the Crista Membrane
The mitochondrial cristae membrane is the primary site for the oxidative phosphorylation (OXPHOS) process of energy conversion mediated through respiratory complexes I to V. These complexes have been widely studied for decades, and it has been proven that they form supramolecular structures called respiratory supercomplexes (SC). These higher-order complexes may be crucial in maintaining the biochemical structure and improving the physiological activity of the individual complexes while...
Electron Transport Chain: Complex III and IV
During the electron transport chain, electrons from NADH and FADH2 are first transferred to complexes I and II, respectively. These two complexes then transfer the electrons to ubiquinol, which carries them further to complex III. Complex III passes the electrons across the intermembrane space to Cyt c, which carries them further to complex IV. Complex IV donates electrons to oxygen and reduces it to water. As electrons pass through complexes I, III, and IV, the energy released aids the pumping...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
Chronic Obstructive Pulmonary Disease II: Emphysema
Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
Chronic bronchitis is a key phenotype of chronic obstructive pulmonary disease (COPD), characterized by airway-centered inflammation and mucus overproduction. It develops from long-term exposure to harmful particles or gases, most commonly cigarette smoke, which triggers a persistent inflammatory response.Cellular and Structural ChangesInflammation initially affects the large bronchi and later the smaller airways, with infiltration by immune cells, including neutrophils, macrophages, and...


