Hervás David, Fornés-Ferrer Victoria, Gómez-Escribano Ana Pilar, Sequedo María Dolores, Peiró Carmen, Millán José María, Vázquez-Manrique Rafael P
Department of Biostatistics, Health Research Institute La Fe (Hospital Universitario y Politécnico La Fe), Valencia, Spain.
Research Group in Molecular, Cellular and Genomic Biomedicine, Health Research Institute La Fe (Hospital Universitario y Politécnico La Fe), Valencia, Spain.
PLoS One. 2017 Jun 20;12(6):e0179283. doi: 10.1371/journal.pone.0179283. eCollection 2017.
Huntington's disease (HD) is an inherited, dominant neurodegenerative disorder caused by an abnormal expansion of CAG triplets in the huntingtin gene (htt). Despite extensive efforts to modify the progression of HD thus far only symptomatic treatment is available. Recent work suggests that treating invertebrate and mice HD models with metformin, a well-known AMPK activator which is used worldwide to treat type 2-diabetes, reduces mutant huntingtin from cells and alleviates many of the phenotypes associated to HD. Herein we report statistical analyses of a sample population of participants in the Enroll-HD database, a world-wide observational study on HD, to assess the effect of metformin intake in HD patients respect to cognitive status using linear models. This cross-sectional study shows for the first time that the use of metformin associates with better cognitive function in HD patients.
亨廷顿舞蹈症（HD）是一种遗传性显性神经退行性疾病，由亨廷顿基因（htt）中CAG三联体异常扩增引起。尽管迄今为止人们为改变HD的病程付出了巨大努力，但目前仍只有对症治疗方法。最近的研究表明，用二甲双胍治疗无脊椎动物和小鼠HD模型，二甲双胍是一种在全球范围内用于治疗2型糖尿病的著名AMPK激活剂，可减少细胞中的突变亨廷顿蛋白，并减轻许多与HD相关的表型。在此，我们报告了对Enroll-HD数据库中参与者样本群体的统计分析，Enroll-HD是一项关于HD的全球观察性研究，使用线性模型评估二甲双胍摄入对HD患者认知状态的影响。这项横断面研究首次表明，二甲双胍的使用与HD患者更好的认知功能相关。
