Generation and characterization of transgenic mice expressing a human mutant α‐galactosidase with an R301Q substitution causing a variant form of Fabry disease

FEBS Letters

Kase, Ryoichi¹  Shimmoto, Michie¹  Ishii, Satoshi¹  Utsumi, Kouichi¹  Taya, Choji²  Itoh, Kohji¹  Sakuraba, Hitoshi¹  Yonekawa, Hiromichi² 

[1] Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113, Japan;Department of Laboratory Animal Science, The Tokyo Metropolitan Institute of Medical Science, 3-18-22 Honkomagome, Bunkyo-ku, Tokyo 113, Japan

关键词: Fabry disease;    α-Galactosidase;    Transgenic mouse;    Gene mutation;   

DOI  :  10.1016/S0014-5793(97)01263-5

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution, which was found in a patient with a variant form of Fabry disease, were established. The mice transcribed a sufficient amount of α-galactosidase mRNA, but the steady-state levels of the enzyme protein were decreased in liver, kidney and heart, only residual activity being detected in these tissues. The mice will be useful for the clarification of the defective regulation of the structurally altered enzyme protein expressed by the mutant gene at the organ or individual level as well as for the evaluation of drugs that stabilize and/or activate the mutant α-galactosidase.

【 授权许可】

Unknown