Bloom综合征（BSyn）是由BLM基因变异引起的常染色体隐性遗传疾病，该基因参与基因组稳定性。BSyn患者表现为生长不良、对阳光敏感、轻度免疫缺陷、糖尿病以及增加患癌症的风险，最常见的是白血病。有趣的是，BSyn患者没有其他早衰的迹象，如早期进行性脱发和白内障。我们旨在确定BSyn患者的表观年龄，它可以更好地预测健康和疾病的情况，而不仅仅是以岁数计算的年龄。我们的结果首次表明，与携带者相比，BSyn患者的血液淋巴细胞在多个测量指标上显示出表观年龄加速的证据。此外，纯合子Blm小鼠在多个组织中（包括脑、血液、肾脏、心脏和皮肤）根据脑部甲基化时钟表现出表观年龄加速。总的来说，我们发现Bloom综合征与多个组织的表观年龄加速效应以及对CpG甲基化水平的显著影响有关。© 2023 The Authors. 由解剖学学会及John Wiley & Sons Ltd.发表于Aging Cell。

Bloom syndrome (BSyn) is an autosomal recessive disorder caused by variants in the BLM gene, which is involved in genome stability. Patients with BSyn present with poor growth, sun sensitivity, mild immunodeficiency, diabetes, and increased risk of cancer, most commonly leukemias. Interestingly, patients with BSyn do not have other signs of premature aging such as early, progressive hair loss and cataracts. We set out to determine epigenetic age in BSyn, which can be a better predictor of health and disease over chronological age. Our results show for the first time that patients with BSyn have evidence of accelerated epigenetic aging across several measures in blood lymphocytes, as compared to carriers. Additionally, homozygous Blm mice exhibit accelerated methylation age in multiple tissues, including brain, blood, kidney, heart, and skin, according to the brain methylation clock. Overall, we find that Bloom syndrome is associated with accelerated epigenetic aging effects in multiple tissues and more generally a strong effect on CpG methylation levels.© 2023 The Authors. Aging Cell published by Anatomical Society and John Wiley & Sons Ltd.