端粒生物学:从疾病到血液学疾病
Kleoniki Roka1, Elena E Solomou2, Antonis Kattamis1
1Division 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.
Frontiers in oncology
|June 5, 2023
概括
端粒长度变化和维护缺陷与人类疾病有关,包括新发现的端粒病. 本综述探讨了端粒生物学及其在各种疾病,特别是血液学疾病中的作用.
科学领域:
- 遗传学和分子生物学
- 人体生理学 人体生理学
- 病理学 病理学 病理学
背景情况:
- 端粒长度变化和端粒维持的病原性变异与许多人类疾病有关.
- 端粒生物学近期的进展使得某些疾病被归类为"端粒病".
- 已经证明,端粒长度会影响疾病的进展和结果.
研究的目的:
- 审查端粒的基本生物学和生理学.
- 描述与端粒功能障碍相关的原型疾病.
- 阐明端粒在血液病的病理生理学中的作用.
主要方法:
- 关于端粒生物学的文献综述.
- 分析与端粒长度和疾病相关的遗传和临床数据.
- 综合有关端粒在各种疾病状态中的作用的信息.
主要成果:
- 端粒功能障碍与包括端粒病在内的各种人类疾病有关.
- 端粒长度在某些条件下作为预后指标.
- 端粒在血液学疾病的发展和进展中起着重要作用.
结论:
- 了解端粒生物学对于诊断和管理端粒病变至关重要.
- 端粒的长度和维持是血液学疾病发病的关键因素.
- 对端粒作用的进一步研究可能会导致新的治疗策略.
相关概念视频
Telomeres and Telomerase
23.5K
In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded...
23.5K
Disorders of Leukocytes
989
Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
989
Disorders of Erythrocytes
1.0K
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
1.0K
Hematopoiesis
5.4K
The process of blood cell formation is called hematopoiesis. Hematopoiesis starts early during development, on the seventh day of embryogenesis. This phase of hematopoiesis is called the primitive wave, wherein the extraembryonic yolk sac allows the production of erythroid cells and endothelial cells from a common precursor called hemangioblast. The erythroid cells provide oxygen to support the growth of the rapidly dividing embryo. Hemangioblasts later develop into hematopoietic stem cells or...
5.4K
Replication in Eukaryotes
14.0K
In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
Many Proteins Orchestrate Replication at the Origin
Eukaryotic replication follows many of the same...
14.0K
Replicative Cell Senescence
3.7K
Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds...
3.7K


