Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.
Department of Pediatrics, Genetics Division, Biochemical Genetics Program, University of California San Diego, La Jolla, California, USA.
J Inherit Metab Dis. 2020 Nov;43(6):1232-1242. doi: 10.1002/jimd.12284. Epub 2020 Aug 4.
Anaplerotic odd-chain fatty acid supplementation has been suggested as an approach to replenish citric acid cycle intermediate (CACi) pools and facilitate adenosine triphosphate (ATP) production in subjects with long-chain fatty acid oxidation disorders, but the evidence that cellular CACi depletion exists and that repletion occurs following anaplerotic substrate supplementation is limited. We exercised very long-chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) and wild-type (WT) mice to exhaustion and collected cardiac tissue for measurement of CACi by targeted metabolomics. In a second experimental group, VLCAD-/- and WT mice that had been fed chow prepared with either medium-chain triglyceride (MCT) oil or triheptanoin for 4 weeks were exercised for 60 minutes. VLCAD-/- mice exhibited lower succinate in cardiac muscle at exhaustion than WT mice suggesting lower CACi in VLCAD-/- with prolonged exercise. In mice fed either MCT or triheptanoin, succinate and malate were greater in VLCAD-/- mice fed triheptanoin compared to VLCAD-/- animals fed MCT but lower than WT mice fed triheptanoin. Long-chain odd acylcarnitines such as C19 were elevated in VLCAD-/- and WT mice fed triheptanoin suggesting some elongation of the heptanoate, but it is unknown what proportion of heptanoate was oxidized vs elongated. Prolonged exercise was associated with decreased cardiac muscle succinate in VLCAD-/- mice in comparison to WT mice. VLCAD-/- fed triheptanoin had increased succinate compared to VLCAD-/- mice fed MCT but lower than WT mice fed triheptanoin. Cardiac CACi were higher following dietary ingestion of an anaplerotic substrate, triheptanoin, in comparison to MCT.
奇数链脂肪酸补料已被建议作为一种方法来补充柠檬酸循环中间产物 (CACi) 池并促进长链脂肪酸氧化障碍患者的三磷酸腺苷 (ATP) 生成,但细胞 CACi 耗竭存在以及补料后补充补料的证据有限。我们让非常长链酰基辅酶 A 脱氢酶缺乏症 (VLCAD-/-) 和野生型 (WT) 小鼠进行力竭运动,并采集心脏组织进行靶向代谢组学测量 CACi。在第二个实验组中,用中链甘油三酯 (MCT) 油或三庚酸酯喂养 4 周的 VLCAD-/-和 WT 小鼠进行 60 分钟的运动。VLCAD-/- 小鼠在力竭时心脏肌肉中的琥珀酸含量低于 WT 小鼠,表明 VLCAD-/- 小鼠在长时间运动时 CACi 较低。在喂食 MCT 或三庚酸酯的小鼠中,与喂食 MCT 的 VLCAD-/- 动物相比,喂食三庚酸酯的 VLCAD-/- 小鼠的琥珀酸和苹果酸含量更高,但低于喂食三庚酸酯的 WT 小鼠。长链奇数酰基肉碱如 C19 在喂食三庚酸酯的 VLCAD-/- 和 WT 小鼠中升高,表明庚酸部分延长,但尚不清楚庚酸的氧化与延长比例。与 WT 小鼠相比,VLCAD-/- 小鼠在长时间运动后心脏肌肉中的琥珀酸减少。与喂食 MCT 的 VLCAD-/- 小鼠相比,喂食三庚酸酯的 VLCAD-/- 小鼠的琥珀酸增加,但低于喂食三庚酸酯的 WT 小鼠。与 MCT 相比,饮食摄入生酮剂三庚酸酯后心脏 CACi 更高。