Sharma Seema, Kaur Inderpreet, Dubey Naina, Goswami Neelima, Tanwar Sampat Singh
Department of Pharmacy, Shri Vaishnav Vidyapeeth Vishwavidyalaya, Indore, M.P, India.
Research Scholar, Department of Pharmacology, SAGE University, Indore, M.P, India.
Mol Neurobiol. 2025 May 16. doi: 10.1007/s12035-025-05054-6.
Huntington's disease (HD) is a genetic neurodegenerative disorder caused by CAG repeat expansion in the HTT gene, producing mutant huntingtin (mHTT) protein. This leads to neuronal damage through protein aggregation, transcriptional dysregulation, excitotoxicity, and mitochondrial dysfunction. mHTT impairs protein clearance and alters gene expression, energy metabolism, and synaptic function. Therapeutic strategies include enhancing mHTT degradation, gene silencing via antisense oligonucleotides and RNAi, promoting neuroprotection through BDNF signaling, and modulating neurotransmitters like glutamate and dopamine. Berberine, a natural isoquinoline alkaloid, has emerged as a promising therapeutic option for HD due to its multifaceted neuroprotective properties. Research indicates that berberine can mitigate the progression of neurodegenerative diseases, including HD, by targeting various molecular pathways. It exhibits antioxidant, anti-inflammatory, and autophagy-enhancing effects, which are crucial in reducing neuronal damage and apoptosis associated with HD. These properties make berberine a potential candidate for therapeutic intervention in HD, as demonstrated in both cellular and animal models. Berberine activates the PI3K/Akt pathway, which is vital for cell survival and neuroprotection. It reduces oxidative stress and neuroinflammation, both of which are implicated in HD pathology. Berberine enhances autophagic processes, promoting the degradation of mutant huntingtin protein, a key pathological feature of HD. In transgenic HD mouse models, berberine administration has been shown to alleviate motor dysfunction and prolong survival. It effectively reduces the accumulation of mutant huntingtin in cultured cells, suggesting a direct impact on the disease's molecular underpinnings. Berberine's safety profile, established through its use in treating other conditions, supports its potential for clinical trials in HD patients. Its ability to modulate neurotransmitter levels and engage multiple signaling pathways further underscores its therapeutic promise. While berberine shows significant potential as a therapeutic agent for HD, further research is necessary to fully elucidate its mechanisms and optimize its clinical application. The current evidence in the review paper, primarily from preclinical studies, provides a strong foundation for future investigations into berberine's efficacy and safety in human HD patients.
亨廷顿舞蹈症(HD)是一种由HTT基因中CAG重复序列扩增引起的遗传性神经退行性疾病,会产生突变型亨廷顿蛋白(mHTT)。这会通过蛋白质聚集、转录失调、兴奋性毒性和线粒体功能障碍导致神经元损伤。mHTT会损害蛋白质清除并改变基因表达、能量代谢和突触功能。治疗策略包括增强mHTT降解、通过反义寡核苷酸和RNA干扰进行基因沉默、通过脑源性神经营养因子(BDNF)信号通路促进神经保护,以及调节谷氨酸和多巴胺等神经递质。黄连素是一种天然异喹啉生物碱,因其多方面的神经保护特性,已成为HD一种有前景的治疗选择。研究表明,黄连素可通过靶向多种分子途径减轻包括HD在内的神经退行性疾病的进展。它具有抗氧化、抗炎和增强自噬的作用,这些作用对于减少与HD相关的神经元损伤和细胞凋亡至关重要。这些特性使黄连素成为HD治疗干预的潜在候选药物,细胞和动物模型研究均已证明这一点。黄连素激活PI3K/Akt信号通路,这对细胞存活和神经保护至关重要。它可降低氧化应激和神经炎症,这两者都与HD病理学有关。黄连素增强自噬过程,促进突变型亨廷顿蛋白的降解——这是HD的一个关键病理特征。在转基因HD小鼠模型中已表明给予黄连素可减轻运动功能障碍并延长生存期。它能有效减少培养细胞中突变型亨廷顿蛋白积累,表明对该疾病的分子基础有直接影响。黄连素通过用于治疗其他病症所确立的安全性,支持其在HD患者中进行临床试验的潜力。其调节神经递质水平和参与多种信号通路的能力进一步凸显了其治疗前景。虽然黄连素作为HD治疗药物显示出巨大潜力,但仍需进一步研究以充分阐明其机制并优化其临床应用。综述论文中的现有证据主要来自临床前研究,为未来研究黄连素在人类HD患者中的疗效和安全性提供了坚实基础。