Department for Cytopathology, Heinrich-Heine-University Düsseldorf, D-40225 Düsseldorf, Germany.
Department for Pediatric Hemato-Oncology, Helios Children's Hospital, D-47805 Krefeld, Germany.
Nutrients. 2024 Jul 15;16(14):2271. doi: 10.3390/nu16142271.
Fanconi anemia, a rare disorder with an incidence of 1 in 300,000, is caused by mutations in genes, which affect the repair of DNA interstrand crosslinks. The disease is characterized by congenital malformations, bone marrow failure within the first decade of life, and recurrent squamous cell carcinomas of the oral cavity, esophagus, and anogenital regions starting around age 20. In this review, we propose that Fanconi anemia should be considered a premature-aging syndrome. Interestingly, the onset and severity of the life-limiting clinical features of Fanconi anemia can be influenced by lifestyle choices, such as a healthy diet and physical activity. These factors shape the epigenetic status of at-risk cell types and enhance the competence of the immune system through nutritional signaling. Fanconi anemia may serve as a model for understanding the aging process in the general population, addressing research gaps in its clinical presentation and suggesting prevention strategies. Additionally, we will discuss how the balance of genetic and environmental risk factors-affecting both cancer onset and the speed of aging-is interlinked with signal transduction by dietary molecules. The underlying nutrigenomic principles will offer guidance for healthy aging in individuals with Fanconi anemia as well as for the general population.
范可尼贫血症是一种罕见疾病,发病率为 30 万分之一,由基因突变为因,影响 DNA 链间交联的修复。这种疾病的特征是先天畸形、生命的第一个十年内骨髓衰竭,以及在 20 岁左右开始反复发作的口腔、食管和肛门生殖器区域的鳞状细胞癌。在这篇综述中,我们提出范可尼贫血症应被视为一种早衰综合征。有趣的是,范可尼贫血症的生命限制临床特征的发作和严重程度可以受到生活方式选择的影响,例如健康饮食和体育活动。这些因素影响高危细胞类型的表观遗传状态,并通过营养信号增强免疫系统的功能。范可尼贫血症可能成为理解普通人群衰老过程的模型,解决其临床表现中的研究空白,并提出预防策略。此外,我们将讨论影响癌症发生和衰老速度的遗传和环境风险因素的平衡如何与膳食分子的信号转导相互关联。潜在的营养基因组学原则将为范可尼贫血症患者以及普通人群的健康老龄化提供指导。