From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia

6533b853fe1ef96bd12ac147

RESEARCH PRODUCT

From clinical description, to in vitro and animal studies, and backward to patients: Oxidative stress and mitochondrial dysfunction in Fanconi anemia

Adriana Zatterale Giuseppe Castello Beatriz Porto Federico Pallardó Sandra Petrović Giovanni Pagano Luca Tiano Annarita Aiello Talamanca Marco D'ischia

subject

Pathology medicine.medical_specialty DNA Repair Free Radicals DNA repair mitochondrial nutrients Cell Cycle Proteins Free radicals Disease Biology medicine.disease_cause Bioinformatics Biochemistry Chemoprevention Pathogenesis 03 medical and health sciences Mice 0302 clinical medicine In vivo Fanconi anemia Physiology (medical)medicine Animals Humans 030304 developmental biology 0303 health sciences Mitochondrial nutrient Nuclear Proteins Fanconi anemia Mitochondrial dysfunction Mitochondrial nutrients Chemoprevention Free radicals medicine.disease Phenotype 3. Good health Mitochondria Oxidative Stress Fanconi Anemia 030220 oncology & carcinogenesis Fanconi anemia Animal studies Reactive Oxygen Species Mitochondrial dysfunction Oxidative stress

description

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.

year	journal	country	edition	language
2013-01-01

10.1016/j.freeradbiomed.2013.01.015 https://hdl.handle.net/11384/84317