【摘 要】
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Spinocerebellar ataxia 3 (SCA3) , also known as Machado-Joseph disease (MJD) , is the most common dominant inherited ataxia worldwide.It caused by an unstab
【机 构】
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510150,广州,广东省产科重大疾病重点实验室,广东省高等教育生殖与遗传重点实验室,广州医科大学附属第三医院
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Spinocerebellar ataxia 3 (SCA3) , also known as Machado-Joseph disease (MJD) , is the most common dominant inherited ataxia worldwide.It caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein and is a neurodegenerative disorder incurable to date.In the present study, we used the episomal reprogramming assay to produce SCA3 iPS from a female patient's skin fibroblasts.This patient-derived iPS cells express the same characteristics with human embryo stem cells,and can be differentiated into neural cells, which have the normal action potential, and no changes in CAG repeat length were detected during the time course for at least 35 passages as iPSCs, up to 3 passages as neural stem cells and 4 weeks of neural differentiation.Besides, we demonstrated that the neural differentiation is accompany with the autophagy.In conclusion, the patient-specific iPS cells is a good model of SCA3 and neural differentiation is accompany with the autophagy.
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