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Current Trends in Endocrinology   Volumes    Volume 6 
Friedreich’s ataxia: Disease progression and the case for estrogen therapy
Timothy E. Richardson, James W. Simpkins
Pages: 1 - 7
Number of pages: 7
Current Trends in Endocrinology
Volume 6 

Copyright © 2012 Research Trends. All rights reserved

First described in 1863, Friedreich’s Ataxia (FRDA) is a progressive hereditary neurodegenerative disorder inherited in an autosomal recessive manner. Caused by a trinucleotide repeat expansion effectively preventing the production of frataxin protein, this disease is characterized by progressive mitochondrial damage, resulting in cell death in organ systems most dependent on the mitochondria for energy production, principally the nervous system and heart. While the exact role of frataxin is currently still unknown, its absence results in the depression of electron transport chain respiration, impairment of function of iron-sulfur containing proteins and impairment of the intrinsic intracellular antioxidant systems. Herein, we review the cellular events that initiate widespread organ dysfunction and discuss ongoing research in therapeutics aimed at inhibiting this damage and halting or slowing the progression of FRDA, including those on estrogen treatment from our laboratory.
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