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Cell Journal، جلد ۱۶، شماره Suppl ۱، صفحات ۱۱۳-۱۱۳
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عنوان انگلیسی Ps-82: NKX2-5eGFP/w hES Cell Model for Studying Mitochondrial Cardiomyopathy
چکیده انگلیسی مقاله Objective: Assembly and function of mitochondrial respiratory chain complexes rely on proteins encoded by hundreds of genes. Mutations in any of these mtDNA or nuclear genes can cause dysfunction of any cell type. Higher energy demand of tissues like skeletal or cardiac muscle and the central nervous system are frequently affected by mitochondrial disorders. Patients with mitochondrial cardiomyopathy often have normal function of the respiratory chain in cell lines like skin fibroblasts that are easily obtained. Studying the mechanism of organ dysfunction without a good model system is thus difficult. To overcome this issue we generated a novel cellular model system to study mitochondrial disorders. Materials and Methods: NKX2-5eGFP/w cells are human Embryonic Stem Cells (ESCs) in which eGFP expression is controlled by the NKX2-5 locus to enable quantification of cardiac differentiation and purification of cardiac progenitor cells (hESC-CPCs) and cardiomyocytes (hESC-CMs). RNA-guided DNA cleavage technology was used for genome editing to knock out genes involved in mitochondrial cardiomyopathy in this cell line. Cells were FACS sorted and single cell cultured for colony formation and further characterization. Mutated cells were confirmed by testing in different culture conditions. Results: The system represents a promising approach for targeted knock-out of genes in NKX2-5eGFP/w hESCs. These hESCs can then be differentiated to functional cardiomyocytes to study the cell-specific mechanisms of mitochondrial cardiomyopathy. Conclusion: hESCs which carry a mitochondrial respiratory chain defect and are differentiated to functional cardiac cells provide an excellent model system. They can be used for validation of novel mitochondrial disease genes in which mutations cause cardiac-specific pathology that cannot be studied in cells or tissues that are normally available. This model system provides a way to explore tissue-specific genetic diseases like heart failure and cardiomyopathy in newborns.
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نشانی اینترنتی http://celljournal.org/journal/article/abstract/407
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