Roka Kleoniki, Solomou Elena E, Kattamis Antonis
Division of Pediatric Hematology-Oncology, First Department of Pediatrics, National & Kapodistrian University of Athens, "Aghia Sophia" Children's Hospital, Full Member of ERN GENTURIS, Athens, Greece.
Department of Internal Medicine, University of Patras Medical School, Rion, Greece.
Front Oncol. 2023 May 19;13:1167848. doi: 10.3389/fonc.2023.1167848. eCollection 2023.
Variations in the length of telomeres and pathogenic variants involved in telomere length maintenance have been correlated with several human diseases. Recent breakthroughs in telomere biology knowledge have contributed to the identification of illnesses named "telomeropathies" and revealed an association between telomere length and disease outcome. This review emphasizes the biology and physiology aspects of telomeres and describes prototype diseases in which telomeres are implicated in their pathophysiology. We also provide information on the role of telomeres in hematological diseases ranging from bone marrow failure syndromes to acute and chronic leukemias.
端粒长度的变化以及参与端粒长度维持的致病变异已与多种人类疾病相关联。端粒生物学知识的最新突破有助于识别名为“端粒病”的疾病，并揭示了端粒长度与疾病预后之间的关联。本综述着重介绍端粒的生物学和生理学方面，并描述了端粒涉及其病理生理学的典型疾病。我们还提供了端粒在从骨髓衰竭综合征到急性和慢性白血病等血液系统疾病中的作用的相关信息。
