کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5585313 | 1568117 | 2017 | 44 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Osteopetroses, emphasizing potential approaches to treatment
ترجمه فارسی عنوان
استئوپتروز، با تاکید بر رویکردهای بالقوه برای درمان
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کلمات کلیدی
HEK293TCIRG1TRAcPLRP5IKBKGHSCTTNFSF11pTHCTXOSTM1IKKIPSCsIFN-γNEMOcarboxy-terminal collagen crosslinksCRISPR associated protein 9Cas9CRISPRCLCN7ADORANKLIκB kinase - IkB kinaseSmall interfering RNA - RNA تداخل کوچکsiRNA - siRNAHuman leukocyte antigen - آنتی ژن لوسکسی انسانHLA - آنتیژن گلبول سفید انسانیCAII - اسبOsteopetrosis - استئوپتروزOsteoclast - استخوانکاه، استئوکلاستtartrate-resistant acid phosphatase - اسید فسفاتاز مقاوم در برابر تارتاتinterferon-γ - اینترفرون-γclustered regularly interspaced short palindromic repeats - به طور منظم تکرار پینگندرومی کوتاه مدت میان دو طرف تقسیم می شودTherapy - درمانRank - رتبهInduced pluripotent stem cells - سلول های بنیادی پرتوان القاییhuman embryonic kidney cells 293 - سلول های کلیوی جنینی انسان 293parathyroid hormone - هورمون پاراتیروئیدLow-density lipoprotein receptor-related protein 5 - پروتئین مرتبط با گیرنده های لیپوپروتئینی کم چگالی 5Hematopoietic stem cell transplantation - پیوند مغز استخوانGenetics - ژنتیک
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شناسی تکاملی
چکیده انگلیسی
Osteopetroses are a heterogeneous group of rare genetic bone diseases sharing the common hallmarks of reduced osteoclast activity, increased bone mass and high bone fragility. Osteoclasts are bone resorbing cells that contribute to bone growth and renewal through the erosion of the mineralized matrix. Alongside the bone forming activity by osteoblasts, osteoclasts allow the skeleton to grow harmonically and maintain a healthy balance between bone resorption and formation. Osteoclast impairment in osteopetroses prevents bone renewal and deteriorates bone quality, causing atraumatic fractures. Osteopetroses vary in severity and are caused by mutations in a variety of genes involved in bone resorption or in osteoclastogenesis. Frequent signs and symptoms include osteosclerosis, deformity, dwarfism and narrowing of the bony canals, including the nerve foramina, leading to hematological and neural failures. The disease is autosomal, with only one extremely rare form associated so far to the X-chromosome, and can have either recessive or dominant inheritance. Recessive ostepetroses are generally lethal in infancy or childhood, with a few milder forms clinically denominated intermediate osteopetroses. Dominant osteopetrosis is so far associated only with mutations in the CLCN7 gene and, although described as a benign form, it can be severely debilitating, although not at the same level as recessive forms, and can rarely result in reduced life expectancy. Severe osteopetroses due to osteoclast autonomous defects can be treated by Hematopoietic Stem Cell Transplant (HSCT), but those due to deficiency of the pro-osteoclastogenic cytokine, RANKL, are not suitable for this procedure. Likewise, it is unclear as to whether HSCT, which has high intrinsic risks, results in clinical improvement in autosomal dominant osteopetrosis. Therefore, there is an unmet medical need to identify new therapies and studies are currently in progress to test gene and cell therapies, small interfering RNA approach and novel pharmacologic treatments.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Bone - Volume 102, September 2017, Pages 50-59
Journal: Bone - Volume 102, September 2017, Pages 50-59
نویسندگان
Anna Teti, Michael J. Econs,