希少疾患の治療法開発と実験動物

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希少疾患の治療法開発と実験動物

コラム

2025年8月3日

1. 厚生労働省. 薬価基準収載品目リスト及び後発医薬品に関する情報について（令和7年4月16日適用）. 厚生労働省ホームページ. 2025.

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6. Miyake N, Kosho T, Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat. 2010;31(8):966-74.

7. Minatogawa M, Hirose T, Mizumoto S, Yamaguchi T, Nagae C, Taki M, Yamada S, Watanabe T, Kosho T. Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient. Hum Mutat. 2022;43(12):1829-36.

8. Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). J Med Genet. 2022;59(9):865-77.

9. Yoshizawa T, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T. Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency. Glycobiology. 2018;28(2):80-9.

10. Shimada S, Yoshizawa T, Takahashi Y, Nitahara-Kasahara Y, Okada T, Nomura Y, Yamanaka H, Kosho T, Matsumoto K. Backcrossing to an appropriate genetic background improves the birth rate of carbohydrate sulfotransferase 14 gene-deleted mice. Exp Anim. 2020;69(4):407-13.

11. Nitahara-Kasahara Y, Mizumoto S, Inoue YU, Saka S, Posadas-Herrera G, Nakamura-Takahashi A, Takahashi Y, Hashimoto A, Konishi K, Miyata S, Masuda C, Matsumoto E, Maruoka Y, Yoshizawa T, Tanase T, Inoue T, Yamada S, Nomura Y, Takeda S, Watanabe A, Kosho T, Okada T. A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing. Dis Model Mech. 2021;14(12).

12. Hirose T, Mizumoto S, Hashimoto A, Takahashi Y, Yoshizawa T, Nitahara-Kasahara Y, Takahashi N, Nakayama J, Takehana K, Okada T, Nomura Y, Yamada S, Kosho T, Watanabe T. Systematic investigation of the skin in Chst14-/- mice: A model for skin fragility in musculocontractural Ehlers-Danlos syndrome caused by CHST14 variants (mcEDS-CHST14). Glycobiology. 2021;31(2):137-50.

13. Ono F, Takahashi Y, Shimada S, Mizumoto S, Miyata S, Nitahara-Kasahara Y, Yamada S, Okada T, Kosho T, Yoshizawa T. Carbohydrate sulfotransferase 14 gene deletion induces dermatan sulfate deficiency and affects collagen structure and bowel contraction. PLoS One. 2025;20(5):e0320943.

14. Yoshizawa T, Kosho T. Mouse Models of Musculocontractural Ehlers-Danlos Syndrome. Genes (Basel). 2023;14(2).

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16. Deenen JC, Horlings CG, Verschuuren JJ, Verbeek AL, van Engelen BG. The Epidemiology of Neuromuscular Disorders: A Comprehensive Overview of the Literature. J Neuromuscul Dis. 2015;2(1):73-85.

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18. Wang LH, Tawil R. Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep. 2016;16(7):66. 19. Yoshizawa T S-HM, Sakurai H, Kosho T. Model animals and attempts to develop therapeutic drugs for facioscapulohumeral muscular dystrophy. Translational and Regulatory Sciences. 2025;7(1):15-25.

信州大学　基盤研究支援センター動物実験支援部門　吉沢隆浩