The research paper in Nature Medicine reported the successful use of a gene-therapy approach in a mouse model developed by deleting the frataxin
The loss of frataxin
is hypothesized to disrupt iron-sulfur clusters and iron homeostasis, increasing toxic free iron and reactive oxygen species.
Two newly described proteins store iron within the matrix: frataxin
(FXN) and mitochondrial ferritin.
is an iron chaperone protein located in mitochondria.
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
Importantly, this study will also evaluate the pharmacodynamic response of RG2833 on various cellular and molecular biomarkers, including frataxin
mRNA and frataxin
The results show that a single intravenous injection of AAVrh10 expressing frataxin
is not only capable of preventing the development of heart disease in the mouse, but also, fully and rapidly treats the mice with advanced stages of heart disease, returning the heart to normal function.
Ahigh throughput-electrochemiluminescence assay for the quantification of frataxin
encodes a 210 amino acid protein that participates in iron-sulfur (Fe-S) cluster protein assembly.
Friedreich's ataxia is caused by a defect in the gene frataxin
, which encodes a 210 amino acid protein that participates in iron-sulfur (Fe-S) cluster protein assembly.
In the studied patients, we had no suspicion of ceruloplasmin deficiency or other clinical forms of hereditary iron overload with neurologic symptoms; thus, genes such as those encoding ceruloplasmin or frataxin
were excluded from our experiments.
FRDA is an inherited disease caused by a gene mutation that reduces the expression of frataxin
, a protein localized in the "power center" of cells known as the mitochondria, and results in a physically debilitating, life-shortening condition.