Murtinheira Fernanda, Farsetti Elisa, Macedo Luana, Boasinha Ana Sofia, Rodrigues Mario S, Fernandes Adelaide, Herrera Federico
BioISI - Instituto de Biosistemas e Ciências integrativas, Faculdade de Ciências da Universidade de Lisboa, 1749-016 Lisbon, Portugal; Departamento de Química e Bioquímica, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal.
Department of Pharmacy, Section of Pharmacology and Toxicology, University of Genova, Genova, Italy; Research Institute for Medicines (iMed.ULisboa), Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal.
Biochim Biophys Acta Mol Basis Dis. 2024 Dec;1870(8):167452. doi: 10.1016/j.bbadis.2024.167452. Epub 2024 Aug 5.
• Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare disorder caused by loss-of-function mutations in the sacsin chaperone. • Sacsin was initially described as a neuronal protein but is also found in astroglia and microglia. • We developed and characterized a new microglial cell model of ARSACS based on human HMC3 cells. • HMC3Sacs− /− cells show aberrant distribution of vimentin and mitochondrial networks, and other alterations with potential consequences on neuroinflammation. • Our results support a possible role for microglial cells in ARSAC
• 魁北克-萨格奈常染色体隐性痉挛性共济失调（ARSACS）是一种由伴侣蛋白Sacsin功能丧失突变引起的罕见疾病。
• Sacsin最初被描述为一种神经元蛋白，但也存在于星形胶质细胞和小胶质细胞中。
• 我们基于人HMC3细胞开发并鉴定了一种新的ARSACS小胶质细胞模型。
• HMC3Sacs− /−细胞显示波形蛋白和线粒体网络分布异常，以及其他可能对神经炎症产生影响的改变。
• 我们的结果支持小胶质细胞在ARSAC中可能发挥的作用
