Document Type
Article
Publication Date
3-14-2024
Original Citation
Chang J,
Ryan M,
Stark M,
Liu S,
Purushothaman P,
Bolan F,
Johnson C,
Champe M,
Meng H,
Lawlor M,
Halawani S,
Ngaba L,
Lynch D,
Davis C,
Gonzalo-Gil E,
Lutz C,
Urbinati F,
Medicherla B,
Fonck C.
AAV8 gene therapy reverses cardiac pathology and prevents early mortality in a mouse model of Friedreich's ataxia. Mol Ther Methods Clin Dev. 2024;32(1):101193.
Keywords
JMG, SS1
JAX Source
Mol Ther Methods Clin Dev. 2024;32(1):101193.
ISSN
2329-0501
PMID
38352270
DOI
https://doi.org/10.1016/j.omtm.2024.101193
Abstract
Friedreich's ataxia (FRDA) is an autosomal-recessive disorder primarily attributed to biallelic GAA repeat expansions that reduce expression of the mitochondrial protein frataxin (FXN). FRDA is characterized by progressive neurodegeneration, with many patients developing cardiomyopathy that progresses to heart failure and death. The potential to reverse or prevent progression of the cardiac phenotype of FRDA was investigated in a mouse model of FRDA, using an adeno-associated viral vector (AAV8) containing the coding sequence of the
Comments
This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).