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Moyamoya Disease Associated with a Deficiency of Complement Component 6

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Title: Moyamoya Disease Associated with a Deficiency of Complement Component 6
Authors: Kato, Masaru Browse this author →KAKEN DB
Kudo, Yuki Browse this author
Hatase, Masanao Browse this author
Tsuchida, Naohisa Browse this author
Takeyama, Shuhei Browse this author
Sugiyama, Taku Browse this author
Fujimura, Miki Browse this author
Yabe, Ichiro Browse this author
Tsujimoto, Hiroshi Browse this author
Fukumori, Yasuo Browse this author
Inoue, Norimitsu Browse this author
Atsumi, Tatsuya Browse this author →KAKEN DB
Keywords: Complement
Complement component 6
C6 gene
Homozygous mutation
Complement deficiency
Moyamoya disease
Issue Date: Aug-2022
Publisher: Elsevier
Journal Title: Journal of Stroke and Cerebrovascular Diseases
Volume: 31
Issue: 8
Start Page: 106601
Publisher DOI: 10.1016/j.jstrokecerebrovasdis.2022.106601
Abstract: Objectives: Complement component 6 (C6) deficiency is a very rare genetic defect that leads to significantly diminished synthesis, secretion, or function of C6. In the current report, we demonstrate a previously undescribed, homozygous missense mutation in exon 17 of the C6 gene (c.2545A>G p.Arg849Gly) in a 35-year-old Japanese woman with moyamoya disease and extremely low levels of CH50 (<7.0 U/mL). Materials and Methods: The complement gene analysis using hybridization capture-based next generation sequencing was performed. CH50 was determined in patient's plasma mixed with plasma from a healthy donor or purified human C6 protein. Western blot was performed on patient's plasma using polyclonal antibodies against C6, with healthy donor's plasma and purified human C6 protein as positive controls while C6-depleted human serum as a negative control. The carriage of ring finger protein 213 variant (c.14576G>A p.Arg4859Lys), a susceptibility gene for moyamoya disease, was examined by direct sequencing. Results: CH50 mixing test clearly showed a deficiency pattern, being rescued by addition of only 1% healthy donor's plasma or 1 μg/mL purified human C6 protein (1/50-1/100 of physiological concentration). Western blot revealed the absence of C6 protein in the patient's plasma, confirming a quantitative deficiency of C6. The ring finger protein 213 variant was not detected. Conclusions: Our data implies that unrecognized complement deficiencies would be harbored in cerebrovascular diseases with unknown etiologies.
Rights: © 2022. This manuscript version is made available under the CC-BY-NC-ND 4.0 license
Type: article (author version)
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 加藤 将

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