دورية أكاديمية
Generation and analysis of TPI deficiency zebrafish model.
| العنوان: | Generation and analysis of TPI deficiency zebrafish model. |
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| المؤلفون: | Sun P; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China., Li Y; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China., Liu F; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China., Wang L; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.; Tianjin Institutes of Health Science, Tianjin 301600, China. |
| المصدر: | Yi chuan = Hereditas [Yi Chuan] 2024 Mar 20; Vol. 46 (3), pp. 232-241. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Ke xue chu ban she Country of Publication: China NLM ID: 9436478 Publication Model: Print Cited Medium: Print ISSN: 0253-9772 (Print) Linking ISSN: 02539772 NLM ISO Abbreviation: Yi Chuan Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Beijing : Ke xue chu ban she, |
| مواضيع طبية MeSH: | Zebrafish* , Anemia, Hemolytic, Congenital Nonspherocytic*/genetics , Anemia, Hemolytic, Congenital Nonspherocytic*/pathology , Carbohydrate Metabolism, Inborn Errors*, Triose-Phosphate Isomerase/*deficiency, Animals ; Humans ; Triose-Phosphate Isomerase/genetics ; Disease Models, Animal |
| مستخلص: | Triosephosphate isomerase deficiency (TPI DF) is a severe multisystem degenerative disease, manifested clinically as hemolytic anemia, neuromuscular abnormalities, and susceptibility to infection, frequently leading to death within 5 years of onset. There is a lack of effective clinical treatment as the pathogenesis underlying TPI DF remains largely unknown. In this study, we generate a transgenic zebrafish line [Tg(Ubi:TPI1 E105D -eGFP)] with the human TPI1 E105D (hTPI1 E105D ) mutation, which is the most recurrent mutation in TPI DF patients. Overexpression of hTPI1 E105D affects the development of erythroid and myeloid cells and leads to impaired neural and muscular development. In conclusion, we create a TPI DF zebrafish model to recapitulate the majority clinical features of TPI DF patients, providing a new animal model for pathogenesis study and drug screening of TPI DF. |
| فهرسة مساهمة: | Keywords: TPI1 E105D; disease model; triosephosphate isomerase deficiency (TPI DF); zebrafish Local Abstract: [Publisher, Chinese] 磷酸丙糖异构酶缺乏症(triosephosphate isomerase deficiency，TPI DF)是一种严重的多系统退行性疾病，通常表现为溶血性贫血、神经肌肉功能障碍和易感染，患者多于起病5年内死亡。目前尚不清楚TPI DF的具体发病机制，缺乏有效的临床治疗方法。本研究选取TPI DF患者中最常见的突变位点TPI1 E105D ，构建了表达人源性TPI1 E105D (hTPI1 E105D )的转基因斑马鱼(Danio rerio)模型[Tg(Ubi:TPI1 E105D -eGFP)]。功能分析表明，过表达TPI1 E105D 影响红系及髓系细胞发育、导致神经以及肌肉发育异常。综上所述，本研究构建了磷酸丙糖异构酶缺乏症的斑马鱼疾病模型，并能够复现TPI DF患者的大部分临床表型，该模型为后续研究TPI DF的发病机制及药物筛选提供了新的实验动物模型。. |
| المشرفين على المادة: | EC 5.3.1.1 (Triose-Phosphate Isomerase) |
| SCR Disease Name: | Triosephosphate Isomerase Deficiency |
| تواريخ الأحداث: | Date Created: 20240417 Date Completed: 20240419 Latest Revision: 20240703 |
| رمز التحديث: | 20240703 |
| DOI: | 10.16288/j.yczz.23-316 |
| PMID: | 38632101 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0253-9772 |
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| DOI: | 10.16288/j.yczz.23-316 |