Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

المؤلفون المشاركون

Richard, Eva
Gallego-Villar, Lorena
Rivera-Barahona, Ana
Oyarzábal, Alfonso
Pérez, Belén
Rodríguez-Pombo, Pilar
Desviat, Lourdes R.

المصدر

Oxidative Medicine and Cellular Longevity

العدد

المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-17، 17ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2018-03-20

دولة النشر

مصر

عدد الصفحات

17

التخصصات الرئيسية

الأحياء

الملخص 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.

نمط استشهاد جمعية علماء النفس الأمريكية (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

نمط استشهاد الجمعية الأمريكية للغات الحديثة (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

نمط استشهاد الجمعية الطبية الأمريكية (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

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1210836