Zagare Alise, Hemedan Ahmed, Almeida Catarina, Frangenberg Daniela, Gomez-Giro Gemma, Antony Paul, Halder Rashi, Krüger Rejko, Glaab Enrico, Ostaszewski Marek, Arena Giuseppe, Schwamborn Jens C
Developmental and Cellular Biology, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Bioinformatics Core Unit, Luxembourg Centre for Systems Biomedicine (LCSB), University of Luxembourg, Esch-sur-Alzette, Luxembourg.
Mov Disord. 2025 Jan;40(1):67-76. doi: 10.1002/mds.30039. Epub 2024 Nov 5.
Parkinson's disease (PD) is the second most common, and the fastest-growing neurodegenerative disorder with unclear etiology in most cases. Therefore, the identification of non-genetic risk factors for PD pathology is crucial to develop effective preventative or therapeutic strategies. An increasing number of evidence suggests that central insulin resistance might have an essential role in PD pathology. Nevertheless, it is not clear whether insulin resistance arises from external factors/lifestyle, comorbidities such as type 2 diabetes or it can occur in a PD patient's brain independently from peripheral insulin resistance.
We aimed to investigate insulin resistance and its role in GBA1 mutation-associated PD pathogenesis and phenotype severity.
Midbrain organoids, generated from induced pluripotent stem cells (iPSCs) of PD patients carrying the GBA1-N370S heterozygous mutation (GBA-PD) and healthy donors, were exposed to different insulin concentrations to modify insulin signaling function. Transcriptomics analysis was performed to explore insulin signaling gene expression patterns in GBA-PD and to find a potential target for GBA-PD-associated phenotype rescue.
The insulin signaling pathway genes show dysregulation in GBA-PD. Particularly, we highlight that a knockdown of FOXO1 mitigates the loss of dopaminergic neurons and cellular death in GBA-PD. Additionally, our findings suggest a promising therapeutic potential of the anti-diabetic drug Pioglitazone in decreasing dopaminergic neuron loss associated with GBA-PD.
Local insulin signaling dysfunction plays a substantial role in GBA-PD pathogenesis, exacerbating dopaminergic neuron death. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
帕金森病(PD)是第二常见且增长最快的神经退行性疾病,多数情况下病因不明。因此,识别PD病理的非遗传风险因素对于制定有效的预防或治疗策略至关重要。越来越多的证据表明,中枢胰岛素抵抗可能在PD病理中起关键作用。然而,尚不清楚胰岛素抵抗是由外部因素/生活方式、2型糖尿病等合并症引起,还是可在PD患者大脑中独立于外周胰岛素抵抗而发生。
我们旨在研究胰岛素抵抗及其在GBA1突变相关的PD发病机制和表型严重程度中的作用。
从携带GBA1-N370S杂合突变的PD患者(GBA-PD)和健康供体的诱导多能干细胞(iPSC)生成的中脑类器官,暴露于不同胰岛素浓度以改变胰岛素信号功能。进行转录组学分析以探索GBA-PD中的胰岛素信号基因表达模式,并寻找GBA-PD相关表型挽救的潜在靶点。
胰岛素信号通路基因在GBA-PD中显示失调。特别地,我们强调敲低FOXO1可减轻GBA-PD中多巴胺能神经元的损失和细胞死亡。此外,我们的研究结果表明抗糖尿病药物吡格列酮在减少与GBA-PD相关的多巴胺能神经元损失方面具有有前景的治疗潜力。
局部胰岛素信号功能障碍在GBA-PD发病机制中起重要作用,加剧多巴胺能神经元死亡。© 2024作者。由Wiley Periodicals LLC代表国际帕金森和运动障碍协会出版的《运动障碍》。