Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.
Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations.
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DOI：
10.1007/s12311-017-0846-9
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发表时间：
2017-06
期刊：
影响因子：
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通讯作者：
Tsuji S
中科院分区：
文献类型：
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作者：
Mitsui J;Koguchi K;Momose T;Takahashi M;Matsukawa T;Yasuda T;Tokushige SI;Ishiura H;Goto J;Nakazaki S;Kondo T;Ito H;Yamamoto Y;Tsuji S
我们报告了对一例 COQ2 复合杂合无义 (R387X) 和错义 (V393A) 突变的家族性多系统萎缩 (MSA) 病例进行高剂量泛醇补充剂的 3 年随访。高剂量补充泛醇显着增加了脑脊液和血浆中的总辅酶 Q10 水平。该患者处于MSA晚期，临床评定量表各项评分3年来保持稳定，未发生变化。然而，通过 15O2 PET 测量的脑氧代谢比在给予泛醇后增加了约 30%，这表明泛醇可以改善大脑中线粒体的氧化代谢。它还表明泛醇对于 COQ2 突变的 MSA 患者具有治疗潜力。有必要对 MSA 患者进行高剂量泛醇给药的进一步临床试验。
We report a 3-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy (MSA) with compound heterozygous nonsense (R387X) and missense (V393A) mutations in COQ2. A high-dose ubiquinol supplementation substantially increased total coenzyme Q10 levels in cerebrospinal fluid as well as in plasma. The patient was at the advanced stage of MSA, and the various scores of clinical rating scales remained stable without changes during the 3 years. The cerebral metabolic ratio of oxygen measured by 15O2 PET, however, increased by approximately 30% after administration of ubiquinol, suggesting that ubiquinol can improve mitochondrial oxidative metabolism in the brain. It also suggests the therapeutic potential of ubiquinol for patients with MSA with COQ2 mutations. Further clinical trials of administration of high-dose ubiquinol to MSA patients are warranted.