Gene therapy in Anderson-Fabry disease. State of the art and future perspectives

被引：2

作者：

Spiniello, Giorgio ^{[1
]}

Verrillo, Federica ^{[1
]}

Ricciolino, Riccardo ^{[1
]}

Prozzo, Dario ^{[1
]}

Tuccillo, Andrea ^{[1
]}

Caiazza, Martina ^{[1
]}

Rubino, Marta ^{[1
]}

机构：

[1] Univ Campania Luigi Vanvitelli, Dept Cardiothorac Sci, Naples, Italy

来源：

CARDIOGENETICS | 2020年 / 10卷 / 01期

关键词：

Cardiomyopathies; Anderson-Fabry disease; gene therapy; ENZYME REPLACEMENT THERAPY; HUMAN ALPHA-GALACTOSIDASE; CARDIOMYOPATHY; EXPRESSION; DIAGNOSIS; FEMALES; MOUSE; DEATH; MALES; LIFE;

D O I：

10.4081/cardiogenetics.2020.9075

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme, agalactosidase A. The inadequate enzymatic activity leads to systemic storage of glycosphingolipids, mostly globotriaosylceramide, in the lysosomes. As of now, enzyme replacement therapy is the only approved treatment for AFD. However, it does not induce a complete and lasting response in several clinical contexts. Gene-mediated enzyme replacement is an emerging approach that could overcome these limits. The single gene nature of AFD enhances the possibility to transfect and modify a small number of cells, making them capable to affect the correction of a larger number of cells. This review summarizes the history and the state of the art of gene therapy in AFD, showing potential benefits and limits.

引用

页码：16 / 20

页数：5

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