Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria
Joint Authors
Richard, Eva
Gallego-Villar, Lorena
Rivera-Barahona, Ana
Oyarzábal, Alfonso
Pérez, Belén
Rodríguez-Pombo, Pilar
Desviat, Lourdes R.
Source
Oxidative Medicine and Cellular Longevity
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-17, 17 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-03-20
Country of Publication
Egypt
No. of Pages
17
Main Subjects
Abstract EN
Inborn errors of metabolism (IEMs) are a group of monogenic disorders characterized by dysregulation of the metabolic networks that underlie development and homeostasis.
Emerging evidence points to oxidative stress and mitochondrial dysfunction as major contributors to the multiorgan alterations observed in several IEMs.
The accumulation of toxic metabolites in organic acidurias, respiratory chain, and fatty acid oxidation disorders inhibits mitochondrial enzymes and processes resulting in elevated levels of reactive oxygen species (ROS).
In other IEMs, as in homocystinuria, different sources of ROS have been proposed.
In patients’ samples, as well as in cellular and animal models, several studies have identified significant increases in ROS levels along with decreases in antioxidant defences, correlating with oxidative damage to proteins, lipids, and DNA.
Elevated ROS disturb redox-signaling pathways regulating biological processes such as cell growth, differentiation, or cell death; however, there are few studies investigating these processes in IEMs.
In this review, we describe the published data on mitochondrial dysfunction, oxidative stress, and impaired redox signaling in branched-chain amino acid disorders, other organic acidurias, and homocystinuria, along with recent studies exploring the efficiency of antioxidants and mitochondria-targeted therapies as therapeutic compounds in these diseases.
American Psychological Association (APA)
Richard, Eva& Gallego-Villar, Lorena& Rivera-Barahona, Ana& Oyarzábal, Alfonso& Pérez, Belén& Rodríguez-Pombo, Pilar…[et al.]. 2018. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxidative Medicine and Cellular Longevity،Vol. 2018, no. 2018, pp.1-17.
https://search.emarefa.net/detail/BIM-1210836
Modern Language Association (MLA)
Richard, Eva…[et al.]. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxidative Medicine and Cellular Longevity No. 2018 (2018), pp.1-17.
https://search.emarefa.net/detail/BIM-1210836
American Medical Association (AMA)
Richard, Eva& Gallego-Villar, Lorena& Rivera-Barahona, Ana& Oyarzábal, Alfonso& Pérez, Belén& Rodríguez-Pombo, Pilar…[et al.]. Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. Oxidative Medicine and Cellular Longevity. 2018. Vol. 2018, no. 2018, pp.1-17.
https://search.emarefa.net/detail/BIM-1210836
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1210836