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論文
- タイトル
- タイトル（英）
- Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype.
- 参照URL
- https://researchmap.jp/masanariitokawa/published_papers/38753336
- 著者
- 著者（英）
- Akane Yoshikawa,Itaru Kushima,Mitsuhiro Miyashita,Kazuhiro Suzuki,Kyoka Iino,Kazuya Toriumi,Yasue Horiuchi,Hideya Kawaji,Norio Ozaki,Masanari Itokawa,Makoto Arai
- 担当区分
- 概要
- 概要（英）
- We previously identified a subtype of schizophrenia (SCZ) characterized by increased plasma pentosidine, a marker of glycation and oxidative stress (PEN-SCZ). However, the genetic factors associated with PEN-SCZ have not been fully clarified. We performed a genome-wide copy number variation (CNV) analysis to identify CNVs associated with PEN-SCZ to provide an insight into the novel therapeutic targets for PEN-SCZ. Plasma pentosidine was measured by high-performance liquid chromatography in 185 patients with SCZ harboring rare CNVs detected by array comparative genomic hybridization. In three patients with PEN-SCZ showing additional autistic features, we detected a novel deletion at 7q31.1 within exons 2 and 3 of IMMP2L, which encodes the inner mitochondrial membrane peptidase subunit 2. The deletion was neither observed in non-PEN-SCZ nor in public database of control subjects. IMMP2L is one of the SCZ risk loci genes identified in a previous SCZ genome-wide association study, and its trans-populational association was recently described. Interestingly, deletions in IMMP2L have been previously linked with autism spectrum disorder. Disrupted IMMP2L function has been shown to cause glycation/oxidative stress in neuronal cells in an age-dependent manner. To our knowledge, this is the first genome-wide CNV study to suggest the involvement of IMMP2L exons 2 and 3 in the etiology of PEN-SCZ. The combination of genomic information with plasma pentosidine levels may contribute to the classification of biological SCZ subtypes that show additional autistic features. Modifying IMMP2L functions may be useful for treating PEN-SCZ if the underlying biological mechanism can be clarified in further studies.
- 出版者・発行元
- 出版者・発行元（英）
- 誌名
- 誌名（英）
- PloS one
- 巻
- 17
- 号
- 7
- 開始ページ
- e0270506
- 終了ページ
- 出版年月
- 2022年
- 査読の有無
- 招待の有無
- 掲載種別
- 研究論文（学術雑誌）
- ISSN
- DOI URL
- https://doi.org/10.1371/journal.pone.0270506
- 共同研究・競争的資金等の研究課題