Lysosomal Diseases Research Unit, SA Pathology at the WCH, North Adelaide, Australia.
Mol Genet Metab. 2010 Jun;100(2):168-75. doi: 10.1016/j.ymgme.2010.02.006. Epub 2010 Feb 14.
Many viral backbones have been used as gene transfer vectors. However, the efficacy of therapy based on human-derived vectors may be limited by the high incidence of pre-existing humoral and cellular memory immunity. To circumvent some of the clinical disadvantages of vectors derived from common human pathogens, we have used an E1-deleted vector derived from a xenogenic adenovirus, canine adenovirus serotype 2 (CAV-2) to ameliorate neuropathological changes associated with the lysosomal storage disorder, mucopolysaccharidosis type IIIA (MPS IIIA). This presently untreatable condition is caused by N-sulfoglucosamine sulfohydrolase (SGSH) deficiency and is characterized by heparan sulfate accumulation and progressive neurodegeneration. Injection of CAV-SGSH-GFP into the thalamus of adult MPS IIIA mouse brain resulted in short-term gene expression. In contrast, intra-ventricular injection of newborn mice yielded dose-dependent transgene expression which persisted for at least 20-weeks and improved neuropathology. Together, these studies suggest that this E1-deleted CAV-2 vector is capable of mediating regional medium-term gene expression and facilitating improvements in neuropathology in MPS IIIA mice.
许多病毒骨架被用作基因转移载体。然而,基于人源载体的治疗效果可能会受到预先存在的体液和细胞记忆免疫的高发生率的限制。为了规避来自常见人类病原体的载体的一些临床缺点,我们使用了一种来自异种腺病毒,犬腺病毒血清型 2(CAV-2)的 E1 缺失载体来改善与溶酶体贮积症相关的神经病理学变化,粘多糖贮积症 IIIA 型(MPS IIIA)。这种目前无法治疗的疾病是由 N-磺基葡萄糖胺磺基水解酶(SGSH)缺乏引起的,其特征是硫酸乙酰肝素积累和进行性神经退行性变。将 CAV-SGSH-GFP 注入成年 MPS IIIA 小鼠大脑的丘脑可导致短期基因表达。相比之下,向新生小鼠脑室注射可导致剂量依赖性的转基因表达,持续至少 20 周,并改善神经病理学。总之,这些研究表明,这种 E1 缺失的 CAV-2 载体能够介导区域中期基因表达,并促进 MPS IIIA 小鼠的神经病理学改善。