دورية أكاديمية
Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.
| العنوان: | Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders. |
|---|---|
| المؤلفون: | Balakumaran A; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research., Mishra PJ; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, and., Pawelczyk E; Laboratory of Diagnostic Radiology Research, Warren G. Magnuson Clinical Center, National Institutes of Health, Department of Health and Human Services, Bethesda, MD;, Yoshizawa S; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research., Sworder BJ; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research., Cherman N; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research., Kuznetsov SA; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research., Bianco P; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy; and., Giri N; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and., Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and., Merlino G; Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, and., Dumitriu B; Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD., Dunbar CE; Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD., Young NS; Hematology Branch, National Heart Lung and Blood Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD., Alter BP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute and., Robey PG; Skeletal Biology Section, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research. |
| المصدر: | Blood [Blood] 2015 Jan 29; Vol. 125 (5), pp. 793-802. Date of Electronic Publication: 2014 Dec 12. |
| نوع المنشور: | Clinical Trial; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| 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 Cells/*metabolism , Dyskeratosis Congenita/*genetics , Mesenchymal Stem Cells/*metabolism , RNA/*genetics , Telomerase/*genetics , Telomere/*metabolism, Adolescent ; Adult ; Animals ; Base Sequence ; Bone Marrow Cells/pathology ; Cell Differentiation ; Cell Proliferation ; Cellular Senescence ; Child ; Child, Preschool ; Colony-Forming Units Assay ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Dyskeratosis Congenita/pathology ; Female ; Hematopoiesis/genetics ; Humans ; Male ; Mesenchymal Stem Cells/pathology ; Mice ; Middle Aged ; Molecular Sequence Data ; Mutation ; RNA/antagonists & inhibitors ; RNA/metabolism ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Telomerase/antagonists & inhibitors ; Telomerase/metabolism ; Telomere/chemistry ; Telomere-Binding Proteins/genetics ; Telomere-Binding Proteins/metabolism |
| مستخلص: | Dyskeratosis congenita (DC) is an inherited multisystem disorder, characterized by oral leukoplakia, nail dystrophy, and abnormal skin pigmentation, as well as high rates of bone marrow (BM) failure, solid tumors, and other medical problems such as osteopenia. DC and telomere biology disorders (collectively referred to as TBD here) are caused by germline mutations in telomere biology genes leading to very short telomeres and limited proliferative potential of hematopoietic stem cells. We found that skeletal stem cells (SSCs) within the BM stromal cell population (BMSCs, also known as BM-derived mesenchymal stem cells), may contribute to the hematologic phenotype. TBD-BMSCs exhibited reduced clonogenicity, spontaneous differentiation into adipocytes and fibrotic cells, and increased senescence in vitro. Upon in vivo transplantation into mice, TBD-BMSCs failed to form bone or support hematopoiesis, unlike normal BMSCs. TERC reduction (a TBD-associated gene) in normal BMSCs by small interfering TERC-RNA (siTERC-RNA) recapitulated the TBD-BMSC phenotype by reducing proliferation and secondary colony-forming efficiency, and by accelerating senescence in vitro. Microarray profiles of control and siTERC-BMSCs showed decreased hematopoietic factors at the messenger RNA level and decreased secretion of factors at the protein level. These findings are consistent with defects in SSCs/BMSCs contributing to BM failure in TBD. |
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| معلومات مُعتمدة: | GGP09227 Italy TI_ Telethon; United States Intramural NIH HHS |
| سلسلة جزيئية: | GENBANK NM002046; NM138712 |
| المشرفين على المادة: | 0 (RNA, Small Interfering) 0 (TINF2 protein, human) 0 (Telomere-Binding Proteins) 0 (telomerase RNA) 63231-63-0 (RNA) EC 2.7.7.49 (TERT protein, human) EC 2.7.7.49 (Telomerase) EC 3.6.1.- (RTEL1 protein, human) EC 3.6.4.- (DNA Helicases) |
| تواريخ الأحداث: | Date Created: 20141216 Date Completed: 20150413 Latest Revision: 20220129 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC4311227 |
| DOI: | 10.1182/blood-2014-06-566810 |
| PMID: | 25499762 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1528-0020 |
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| DOI: | 10.1182/blood-2014-06-566810 |