Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations

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 Q(10) levels in cer...

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Detalles Bibliográficos
Autores principales: Mitsui, Jun, Koguchi, Ken, Momose, Toshimitsu, Takahashi, Miwako, Matsukawa, Takashi, Yasuda, Tsutomu, Tokushige, Shin-ichi, Ishiura, Hiroyuki, Goto, Jun, Nakazaki, Shigeaki, Kondo, Tomoyoshi, Ito, Hidefumi, Yamamoto, Yorihiro, Tsuji, Shoji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2017
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427137/
https://www.ncbi.nlm.nih.gov/pubmed/28150130
http://dx.doi.org/10.1007/s12311-017-0846-9
Descripción
Sumario: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 Q(10) 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 (15)O(2) 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.

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