From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia
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Pagano, GiovanniTalamanca, Annarita Aiello
Castello, Giuseppe
d'Ischia, Marco
Pallardo, Federico V.
Petrović, Sandra
Porto, Beatriz
Tiano, Luca
Zatterale, Adriana
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Fanconi anemia (FA) is a rare genetic disease associated with deficiencies in DNA repair pathways. A body of literature points to a pro-oxidant state in FA patients, along with evidence for oxidative stress (OS) in the FA phenotype reported by in vitro, molecular, and animal studies. A highlight arises from the detection of mitochondrial dysfunction (MDF) in FA cell lines of complementation groups A, C, D2, and G. As yet lacking, in vivo studies should focus on FA-associated MDF, which may help in the understanding of the mitochondrial basis of OS detected in cells and body fluids from FA patients. Beyond the in vitro and animal databases, the available analytical devices may prompt the direct observation of metabolic and mitochondrial alterations in FA patients. These studies should evaluate a set of MDF-related endpoints, to be related to OS endpoints. The working hypothesis is raised that, parallel to OS, nitrosative stress might be another, so far unexplored, hallmark of the FA phe...notype. The expected results may shed light on the FA pathogenesis and might provide grounds for pilot chemoprevention trials using mitochondrial nutrients. (C) 2013 Elsevier Inc. All rights reserved.
Keywords:
Fanconi anemia / mitochondrial dysfunction / mitochondrial nutrients / Chemoprevention / Free radicalsSource:
Free Radical Biology and Medicine, 2013, 58, 118-125Funding / projects:
- Radiosensitivity of human genome (RS-MESTD-Basic Research (BR or ON)-173046)
DOI: 10.1016/j.freeradbiomed.2013.01.015
ISSN: 0891-5849
PubMed: 23376230
WoS: 000317945000014
Scopus: 2-s2.0-84874943800
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VinčaTY - JOUR AU - Pagano, Giovanni AU - Talamanca, Annarita Aiello AU - Castello, Giuseppe AU - d'Ischia, Marco AU - Pallardo, Federico V. AU - Petrović, Sandra AU - Porto, Beatriz AU - Tiano, Luca AU - Zatterale, Adriana PY - 2013 UR - https://vinar.vin.bg.ac.rs/handle/123456789/5454 AB - Fanconi anemia (FA) is a rare genetic disease associated with deficiencies in DNA repair pathways. A body of literature points to a pro-oxidant state in FA patients, along with evidence for oxidative stress (OS) in the FA phenotype reported by in vitro, molecular, and animal studies. A highlight arises from the detection of mitochondrial dysfunction (MDF) in FA cell lines of complementation groups A, C, D2, and G. As yet lacking, in vivo studies should focus on FA-associated MDF, which may help in the understanding of the mitochondrial basis of OS detected in cells and body fluids from FA patients. Beyond the in vitro and animal databases, the available analytical devices may prompt the direct observation of metabolic and mitochondrial alterations in FA patients. These studies should evaluate a set of MDF-related endpoints, to be related to OS endpoints. The working hypothesis is raised that, parallel to OS, nitrosative stress might be another, so far unexplored, hallmark of the FA phenotype. The expected results may shed light on the FA pathogenesis and might provide grounds for pilot chemoprevention trials using mitochondrial nutrients. (C) 2013 Elsevier Inc. All rights reserved. T2 - Free Radical Biology and Medicine T1 - From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia VL - 58 SP - 118 EP - 125 DO - 10.1016/j.freeradbiomed.2013.01.015 ER -
@article{ author = "Pagano, Giovanni and Talamanca, Annarita Aiello and Castello, Giuseppe and d'Ischia, Marco and Pallardo, Federico V. and Petrović, Sandra and Porto, Beatriz and Tiano, Luca and Zatterale, Adriana", year = "2013", abstract = "Fanconi anemia (FA) is a rare genetic disease associated with deficiencies in DNA repair pathways. A body of literature points to a pro-oxidant state in FA patients, along with evidence for oxidative stress (OS) in the FA phenotype reported by in vitro, molecular, and animal studies. A highlight arises from the detection of mitochondrial dysfunction (MDF) in FA cell lines of complementation groups A, C, D2, and G. As yet lacking, in vivo studies should focus on FA-associated MDF, which may help in the understanding of the mitochondrial basis of OS detected in cells and body fluids from FA patients. Beyond the in vitro and animal databases, the available analytical devices may prompt the direct observation of metabolic and mitochondrial alterations in FA patients. These studies should evaluate a set of MDF-related endpoints, to be related to OS endpoints. The working hypothesis is raised that, parallel to OS, nitrosative stress might be another, so far unexplored, hallmark of the FA phenotype. The expected results may shed light on the FA pathogenesis and might provide grounds for pilot chemoprevention trials using mitochondrial nutrients. (C) 2013 Elsevier Inc. All rights reserved.", journal = "Free Radical Biology and Medicine", title = "From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia", volume = "58", pages = "118-125", doi = "10.1016/j.freeradbiomed.2013.01.015" }
Pagano, G., Talamanca, A. A., Castello, G., d'Ischia, M., Pallardo, F. V., Petrović, S., Porto, B., Tiano, L.,& Zatterale, A.. (2013). From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia. in Free Radical Biology and Medicine, 58, 118-125. https://doi.org/10.1016/j.freeradbiomed.2013.01.015
Pagano G, Talamanca AA, Castello G, d'Ischia M, Pallardo FV, Petrović S, Porto B, Tiano L, Zatterale A. From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia. in Free Radical Biology and Medicine. 2013;58:118-125. doi:10.1016/j.freeradbiomed.2013.01.015 .
Pagano, Giovanni, Talamanca, Annarita Aiello, Castello, Giuseppe, d'Ischia, Marco, Pallardo, Federico V., Petrović, Sandra, Porto, Beatriz, Tiano, Luca, Zatterale, Adriana, "From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia" in Free Radical Biology and Medicine, 58 (2013):118-125, https://doi.org/10.1016/j.freeradbiomed.2013.01.015 . .