A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation.
A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation.
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DOI：
10.1007/s10545-010-9061-2
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发表时间：
2010-10
影响因子：
4.2
通讯作者：
Wanders, Ronald J. A.
中科院分区：
文献类型：
--
作者：
Houten, Sander Michel;Wanders, Ronald J. A.
多年来，线粒体脂肪酸β氧化途径在生物化学水平和分子生物学水平上都有不同的特点。粮农组织在能量平衡方面发挥着关键作用，但它作为主要氧化底物与葡萄糖竞争。这种所谓的葡萄糖-脂肪酸循环背后的机制在激素、转录和生化水平上运作。大多数粮农组织酶的遗传缺陷已经确定并确定了特征，目前已列入新生儿筛查计划。症状包括低酮症、低血糖、骨骼肌病和心肌病。这些疾病的病理生理学仍不完全清楚，阻碍了最佳治疗。对患者和小鼠模型的研究将有助于我们了解其发病机制，并最终将导致更好的治疗。
Over the years, the mitochondrial fatty acid β-oxidation (FAO) pathway has been characterised at the biochemical level as well as the molecular biological level. FAO plays a pivotal role in energy homoeostasis, but it competes with glucose as the primary oxidative substrate. The mechanisms behind this so-called glucose–fatty acid cycle operate at the hormonal, transcriptional and biochemical levels. Inherited defects for most of the FAO enzymes have been identified and characterised and are currently included in neonatal screening programmes. Symptoms range from hypoketotic hypoglycaemia to skeletal and cardiac myopathies. The pathophysiology of these diseases is still not completely understood, hampering optimal treatment. Studies of patients and mouse models will contribute to our understanding of the pathogenesis and will ultimately lead to better treatment.
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