Research and Development Unit, Department of Human Genetics, National Institute of Health Doutor Ricardo Jorge (INSA I.P), Rua Alexandre Herculano, 321, 4000-055 Porto, Portugal.
Center for the Study of Animal Science, CECA-ICETA, University of Porto, Praça Gomes Teixeira, Apartado 55142, 4051-401 Porto, Portugal.
Int J Mol Sci. 2020 Aug 10;21(16):5732. doi: 10.3390/ijms21165732.
More than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches are under development, either addressing the underlying enzymatic defect or its downstream consequences. Also under study is the possibility to block substrate accumulation upstream, by promoting a decrease of its synthesis. This concept is known as substrate reduction therapy and may be triggered by several molecules, such as small interfering RNAs (siRNAs). siRNAs promote RNA interference, a naturally occurring sequence-specific post-transcriptional gene-silencing mechanism, and may target virtually any gene of interest, inhibiting its expression. Still, naked siRNAs have limited cellular uptake, low biological stability, and unfavorable pharmacokinetics. Thus, their translation into clinics requires proper delivery methods. One promising platform is a special class of liposomes called stable nucleic acid lipid particles (SNALPs), which are characterized by high cargo encapsulation efficiency and may be engineered to promote targeted delivery to specific receptors. Here, we review the concept of SNALPs, presenting a series of examples on their efficacy as siRNA nanodelivery systems. By doing so, we hope to unveil the therapeutic potential of these nanosystems for targeted brain delivery of siRNAs in LSDs.
超过三分之二的溶酶体贮积症(LSDs)存在中枢神经系统受累。然而,目前批准的治疗方法中只有一种对神经病理学有影响。因此,正在开发替代方法,要么针对潜在的酶缺陷,要么针对其下游后果。研究还包括通过促进其合成减少来阻止底物在上游积累的可能性。这一概念被称为底物减少疗法,可能由几种分子触发,如小干扰 RNA(siRNA)。siRNA 促进 RNA 干扰,这是一种自然发生的序列特异性转录后基因沉默机制,并且可以靶向几乎任何感兴趣的基因,抑制其表达。然而,裸露的 siRNA 细胞摄取有限,生物稳定性低,药代动力学不理想。因此,它们转化为临床应用需要适当的递送方法。一种有前途的平台是一类特殊的脂质体,称为稳定核酸脂质体(SNALP),其特点是高载药包封效率,并可设计为促进针对特定受体的靶向递送。在这里,我们回顾了 SNALP 的概念,展示了一系列作为 siRNA 纳米递药系统的功效的例子。通过这样做,我们希望揭示这些纳米系统在 LSD 中针对大脑靶向递送 siRNA 的治疗潜力。