骨髓移植、颅内 AAV 介导的基因治疗或两者联合治疗 MPS IIIB 小鼠模型的疗效。
Therapeutic efficacy of bone marrow transplant, intracranial AAV-mediated gene therapy, or both in the mouse model of MPS IIIB.
机构信息
Department of Internal Medicine, Washington University School of Medicine, St Louis, Missouri, USA.
出版信息
Mol Ther. 2010 May;18(5):873-80. doi: 10.1038/mt.2010.17. Epub 2010 Feb 23.
Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease resulting from a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. In an attempt to correct the disease in the murine model of MPS IIIB, neonatal mice were treated with intracranial AAV2/5-NAGLU (AAV), syngeneic bone marrow transplant (BMT), or both (AAV/BMT). All treatments resulted in some improvement in clinical phenotype. Adeno-associated viral (AAV) treatment resulted in improvements in lifespan, motor function, hearing, time to activity onset, and daytime activity level, but no reduction of lysosomal storage. BMT resulted in improved hearing by 9 months, and improved circadian measures, but had no effect on lifespan, motor function, or central nervous system (CNS) lysosomal storage. AAV/BMT treatment resulted in improvements in hearing, time to activity onset, motor function, and reduced CNS lysosomal storage, but had no effect on lifespan. Combination therapy compared to either therapy alone resulted in synergistic effects on hearing and CNS lysosomal inclusions but antagonistic effects on motor function and lifespan. AAV alone is more efficacious than BMT or AAV/BMT treatment for lifespan. BMT was the least efficacious treatment by all measures. CNS-directed AAV treatment alone appears to be the preferred treatment, combining the most efficacy with the least toxicity of the approaches assessed.
Sanfilippo 综合征 B 型(MPS IIIB)是一种溶酶体贮积病,由 N-乙酰葡萄糖胺酶(NAGLU)活性缺乏引起。为了在 MPS IIIB 的鼠模型中纠正该疾病,对新生鼠进行了脑内 AAV2/5-NAGLU(AAV)、同基因骨髓移植(BMT)或两者(AAV/BMT)的治疗。所有治疗均导致临床表型的某些改善。腺相关病毒(AAV)治疗可改善寿命、运动功能、听力、活动开始时间和白天活动水平,但不能减少溶酶体贮积。BMT 可使听力在 9 个月时得到改善,并改善昼夜节律测量,但对寿命、运动功能或中枢神经系统(CNS)溶酶体贮积无影响。AAV/BMT 治疗可改善听力、活动开始时间、运动功能和减少 CNS 溶酶体贮积,但对寿命无影响。与单独治疗相比,联合治疗在听力和 CNS 溶酶体包涵体方面具有协同作用,但在运动功能和寿命方面具有拮抗作用。AAV 单独治疗的寿命比 BMT 或 AAV/BMT 治疗更有效。BMT 是所有措施中最无效的治疗方法。单独针对 CNS 的 AAV 治疗似乎是首选治疗方法,其结合了评估方法中最有效的疗效和最小的毒性。