دورية أكاديمية
Bone marrow failure and the telomeropathies.
| العنوان: | Bone marrow failure and the telomeropathies. |
|---|---|
| المؤلفون: | Townsley DM; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Dumitriu B; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD., Young NS; Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD. |
| المصدر: | Blood [Blood] 2014 Oct 30; Vol. 124 (18), pp. 2775-83. Date of Electronic Publication: 2014 Sep 18. |
| نوع المنشور: | Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2021- : [New York] : Elsevier Original Publication: New York, Grune & Stratton [etc.] |
| مواضيع طبية MeSH: | Bone Marrow/*pathology , Bone Marrow Diseases/*pathology , Telomere/*pathology, Animals ; Bone Marrow Diseases/diagnosis ; Bone Marrow Diseases/therapy ; Genetic Association Studies ; Humans ; Neoplasms/genetics ; Neoplasms/pathology ; Telomerase/metabolism |
| مستخلص: | Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is poorly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for clinical manifestations in adult life. Telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and genes encoding components of the shelterin complex and related proteins. Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. Telomerase mutations also are etiologic in familial pulmonary fibrosis and cryptic liver disease. Detection of a telomere disease requires awareness in the clinic, appropriate laboratory testing of telomere content, and genetic sequencing. In treatment decisions, genetic screening of related donors for hematopoietic stem cell transplantation is critical, and androgen therapy may be helpful. Telomeres shorten normally with aging, as well as under environmental circumstances, with regenerative stress and oxidative damage. Telomere biology is complexly related to oncogenesis: telomere attrition is protective by enforcing senescence or apoptosis in cells with a long mitotic history, but telomere loss also can destabilize the genome by chromosome rearrangement and aneuploidy. |
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| المشرفين على المادة: | EC 2.7.7.49 (Telomerase) |
| تواريخ الأحداث: | Date Created: 20140920 Date Completed: 20150227 Latest Revision: 20220408 |
| رمز التحديث: | 20240829 |
| مُعرف محوري في PubMed: | PMC4215309 |
| DOI: | 10.1182/blood-2014-05-526285 |
| PMID: | 25237198 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1528-0020 |
|---|---|
| DOI: | 10.1182/blood-2014-05-526285 |