目的：脊髓性肌萎缩症(SMA)是一组常染色体隐性遗传性疾病,由于SMN基因的缺失或突变，导致脊髓前角细胞变性坏死，引起肢体近端肌肉无力和肌萎缩。该病至今无有效治疗，干细胞治疗可望给患者带来福音。该研究拟探讨SMA患者骨髓间质干细胞（MSCs）能否分化为神经元样细胞，从而为SMA的干细胞治疗提供实验依据。方法：用PCR-RFLP的方法对SMA患者进行基因诊断；分离和纯化患者的（MSCs），在bFGF预诱导后，再用黄芩甙诱导MSCs分化为神经元样细胞；用神经元标志物NSE和NF鉴定诱导的神经元样细胞。上述研究均与对照者进行对比。结果：PCR-RFLP证实所选患者SMN1基因外显子7缺失，而对照者无缺失；SMA患者和对照者的MSCs形态相同，增殖速度相似；两组MSCs经黄芩甙诱导6 d后，大多数细胞转变为类似于神经元的形态，有长的突起，相互之间连接呈网状。免疫荧光染色鉴定两组分化后的神经元样细胞，NSE和NF均为阳性。结论：SMN1基因缺失不影响MSCs的增殖和分化，SMA患者的MSCs能够分化为神经元样细胞。［中国当代儿科杂志，2007，9（5）：453-456］

OBJECTIVE: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. It is characterized by selective loss of spinal cord motor neurons leading to muscle atrophy and is the result of mutation or deletion of the survival motor neuron (SMN) gene. Currently, there are no effective therapies for this disease. Stem cell therapy is a new prospect for SMA patients. This study aimed to investigate whether mesenchymal stem cells (MSCs) can be differentiated into neuron-like cells (NLCs) in SMA patients in order to provide a basis for stem cell therapy for SMA. METHODS: SMA was definitively diagnosed using polymerase chain reaction-restriction fragment length polymerphhism (PCR-RFLP). Two children without SMN1 gene deletion were used as controls. MSCs were isolated and purified from SMA patients and controls, and induced into NLCs by bFGF and baicalin. The NLCs were identified by immunofluourescence staining with NSE and NF monoclonal antibodies. RESULTS: SMA patients showed the deletion of SMN1 exon 7. The morphous and proliferative speed of MSCs between SMA patients and controls were similar. After 6-day induction, MSCs of the two groups displayed similar morphology to that of neurons, with long processes forming extensive networks. NSE and NF, the neuronal markers, were detected in the differentiated NLCs of the two groups. CONCLUSIONS: SMN1 deletion appears not to affect the proliferation and differentiation of MSCs. MSCs of SMA patients can be differentiated into NLCs.