0300: Systemic delivery of AAVrh10 expressing frataxin corrects the severe mitochondrial cardiomyopathy of frataxin deficient mice
نویسندگان
چکیده
منابع مشابه
Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.
Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1) amplicon vectors containing the entire FXN genomi...
متن کاملThe mitochondrial protein frataxin prevents nuclear damage.
The mitochondrial protein frataxin helps maintain appropriate iron levels in the mitochondria of yeast and humans. A deficiency of this protein in humans causes Friedreich's ataxia, while its complete absence in yeast (Delta yfh1 mutant) results in loss of mitochondrial DNA, apparently due to radicals generated by excess iron. We found that the absence of frataxin in yeast also leads to nuclear...
متن کاملInactivation of mitochondrial aspartate aminotransferase contributes to the respiratory deficit of yeast frataxin-deficient cells.
Friedreich's ataxia is a hereditary neurodegenerative disease caused by reduced expression of mitochondrial frataxin. Frataxin deficiency causes impairment in respiratory capacity, disruption of iron homoeostasis and hypersensitivity to oxidants. Although the redox properties of NAD (NAD+ and NADH) are essential for energy metabolism, only few results are available concerning homoeostasis of th...
متن کاملMitochondrial Fe-S cluster biogenesis, frataxin and the modulation of susceptibility to drug-induced cardiomyopathy
The role of energy deficits in the development and progression of heart failure is well-established and cardiac high-energy phosphate levels correlate directly with survival in cardiomyopathy patients [1]. In light of these clinical observations it has been posited that the modulation of mitochondrial function may be a feasible strategy to ameliorate heart failure. Aspects of mitochondrial func...
متن کاملFrataxin and mitochondrial FeS cluster biogenesis.
Friedreich ataxia is an inherited neurodegenerative disease caused by frataxin deficiency. Frataxin is a conserved mitochondrial protein that plays a role in FeS cluster assembly in mitochondria. FeS clusters are modular cofactors that perform essential functions throughout the cell. They are synthesized by a multistep and multisubunit mitochondrial machinery that includes the scaffold protein ...
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ژورنال
عنوان ژورنال: Archives of Cardiovascular Diseases Supplements
سال: 2014
ISSN: 1878-6480
DOI: 10.1016/s1878-6480(14)71397-7