Fanconi anemia (FA) has been investigated since early studies based on two definitions, namely defective DNA repair and proinflammatory condition. The former definition has built up the grounds for FA diagnosis as excess sensitivity of patients’ cells to xenobiotics as diepoxybutane and mitomycin C, resulting in typical chromosomal abnormalities. Another line of studies has related FA phenotype to a prooxidant state, as detected by both in vitro and ex vivo studies. The discovery that the FA group G (FANCG) protein is found in mitochondria (Mukhopadhyay et al., 2006) has been followed by an extensive line of studies providing evidence for multiple links between other FA gene products and mitochondrial dysfunction. The fact that FA proteins are encoded by nuclear, not mitochondrial DNA does not prevent these proteins to hamper mitochondrial function, as it is recognized that most mitochondrial proteins are of nuclear origin. This body of evidence supporting a central role of mitochondrial dysfunction, along with redox imbalance in FA, should lead to the re-definition of FA as a mitochondrial disease. A body of literature has demonstrated the beneficial effects of mitochondrial cofactors, such as α-lipoic acid, coenzyme Q10, and carnitine on patients affected by mitochondrial diseases. Altogether, this re-definition of FA as a mitochondrial disease and the prospect use of mitochondrial nutrients may open new gateways toward mitoprotective strategies for FA patients. These strategies are expected to mitigate the mitochondrial dysfunction and prooxidant state in FA patients, and potentially protect transplanted FA patients from post-transplantation malignancies.

自早期研究以来，已经根据两种定义对范可尼贫血（FA）进行了研究，即DNA缺陷修复和促炎性疾病。前者的定义为FA诊断奠定了基础，因为患者的细胞对异生物素（如环氧丁烷和丝裂霉素C）的敏感性过高，导致典型的染色体异常。另一项研究已将FA表型与促氧化剂状态相关联（通过体外和离体检测）学习。在线粒体中发现FA组G（FANCG）蛋白的发现（Mukhopadhyay等人，2006年）之后，进行了广泛的研究，为其他FA基因产物与线粒体功能障碍之间的多种联系提供了证据。FA蛋白是由核而不是线粒体DNA编码的事实，不能阻止这些蛋白妨碍线粒体功能，因为已经认识到大多数线粒体蛋白都是核起源的。支持线粒体功能障碍的中心作用的这一证据以及FA中的氧化还原失衡，应导致将FA重新定义为线粒体疾病。大量文献证明了线粒体辅助因子（例如α-硫辛酸，辅酶Q10和肉碱）对线粒体疾病患者的有益作用。共，将FA重新定义为线粒体疾病以及线粒体营养物的潜在使用可能为FA患者的微线保护策略打开新的途径。这些策略有望减轻FA患者的线粒体功能障碍和促氧化剂状态，并可能保护移植的FA患者免于移植后的恶性肿瘤。