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Neurodegeneration in Friedreich’s Ataxia : From Defective Frataxin to Oxidative Stress
Joint Authors
Santos, Renata
Gomes, Cláudio M.
Source
Oxidative Medicine and Cellular Longevity
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-09
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Biology
Abstract EN
Friedreich’s ataxia is the most common inherited autosomal recessive ataxia and is characterized by progressive degeneration of the peripheral and central nervous systems and cardiomyopathy.
This disease is caused by the silencing of the FXN gene and reduced levels of the encoded protein, frataxin.
Frataxin is a mitochondrial protein that functions primarily in iron-sulfur cluster synthesis.
This small protein with an α/β sandwich fold undergoes complex processing and imports into the mitochondria, generating isoforms with distinct N-terminal lengths which may underlie different functionalities, also in respect to oligomerization.
Missense mutations in the FXN coding region, which compromise protein folding, stability, and function, are found in 4% of FRDA heterozygous patients and are useful to understand how loss of functional frataxin impacts on FRDA physiopathology.
In cells, frataxin deficiency leads to pleiotropic phenotypes, including deregulation of iron homeostasis and increased oxidative stress.
Increasing amount of data suggest that oxidative stress contributes to neurodegeneration in Friedreich’s ataxia.
American Psychological Association (APA)
Gomes, Cláudio M.& Santos, Renata. 2013. Neurodegeneration in Friedreich’s Ataxia : From Defective Frataxin to Oxidative Stress. Oxidative Medicine and Cellular Longevity،Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-475585
Modern Language Association (MLA)
Gomes, Cláudio M.& Santos, Renata. Neurodegeneration in Friedreich’s Ataxia : From Defective Frataxin to Oxidative Stress. Oxidative Medicine and Cellular Longevity No. 2013 (2013), pp.1-10.
https://search.emarefa.net/detail/BIM-475585
American Medical Association (AMA)
Gomes, Cláudio M.& Santos, Renata. Neurodegeneration in Friedreich’s Ataxia : From Defective Frataxin to Oxidative Stress. Oxidative Medicine and Cellular Longevity. 2013. Vol. 2013, no. 2013, pp.1-10.
https://search.emarefa.net/detail/BIM-475585
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-475585