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2013 ; 1514
(ä): 91-7
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Therapeutic strategies in Friedreich s ataxia
#MMPMID23587934
Richardson TE
; Kelly HN
; Yu AE
; Simpkins JW
Brain Res
2013[Jun]; 1514
(ä): 91-7
PMID23587934
show ga
First established as a diagnosis by Nikolaus Friedreich in 1863, Friedreich's
ataxia (FA) is an autosomal recessive progressive neurodegenerative disorder
cause by a trinucleotide repeat expansion. FA begins with the functional absence
of the FXN gene product frataxin, a protein whose exact function still remains
unknown. This absence results in impaired intracellular antioxidant defenses,
dysregulation of iron-sulfur cluster proteins, depression of aerobic electron
transport chain respiration, massive mitochondrial dysfunction, and ultimately
cell death in the brain, spinal cord and heart. Herein, we review the molecular
and cellular pathogenesis leading to widespread organ system dysfunction, as well
as current therapeutic research aimed at preventing the debilitating effects of
frataxin loss and preventing the signs and symptoms associated of FA. We also
discuss the ongoing treatment strategies employed by our laboratory to prevent
mitochondrial damage using synergistic effects of 17?-estradiol and methylene
blue, previously shown by our group and others to have protective effects in
human FA fibroblasts. This article is part of a Special Issue entitled Hormone
Therapy.
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