Dipartimento di Endocrinologia, Fisiopatologia e Biologia Applicata, and Centre of Excellence on Neurodegenerative Diseases, Università degli Studi di Milano, Milan, Italy.
Pharmacol Res. 2012 Feb;65(2):221-30. doi: 10.1016/j.phrs.2011.12.001. Epub 2011 Dec 10.
Anabolic/androgenic steroids (AAS) are drugs that enhance muscle mass, and are often illegally utilized in athletes to improve their performances. Recent data suggest that the increased risk for amyotrophic lateral sclerosis (ALS) in male soccer and football players could be linked to AAS abuse. ALS is a motor neuron disease mainly occurring in sporadic (sALS) forms, but some familial forms (fALS) exist and have been linked to mutations in different genes. Some of these, in their wild type (wt) form, have been proposed as risk factors for sALS, i.e. superoxide dismutase 1 (SOD1) gene, whose mutations are causative of about 20% of fALS. Notably, SOD1 toxicity might occur both in motor neurons and in muscle cells. Using gastrocnemius muscles of mice overexpressing human mutant SOD1 (mutSOD1) at different disease stages, we found that the expression of a selected set of genes associated to muscle atrophy, MyoD, myogenin, atrogin-1, and transforming growth factor (TGF)β1, is up-regulated already at the presymptomatic stage. Atrogin-1 gene expression was increased also in mice overexpressing human wtSOD1. Similar alterations were found in axotomized mouse muscles and in cultured ALS myoblast models. In these ALS models, we then evaluated the pharmacological effects of the synthetic AAS nandrolone on the expression of the genes modified in ALS muscle. Nandrolone administration had no effects on MyoD, myogenin, and atrogin-1 expression, but it significantly increased TGFβ1 expression at disease onset. Altogether, these data suggest that, in fALS, muscle gene expression is altered at early stages, and AAS may exacerbate some of the alterations induced by SOD1 possibly acting as a contributing factor also in sALS.
合成代谢/雄激素类固醇(AAS)是一种能增加肌肉质量的药物,常被运动员非法用于提高运动成绩。最近的数据表明,男性足球和足球运动员患肌萎缩侧索硬化症(ALS)的风险增加可能与 AAS 滥用有关。ALS 是一种主要发生在散发性(sALS)形式的运动神经元疾病,但也存在一些家族性形式(fALS),并与不同基因的突变有关。其中一些,以其野生型(wt)形式,被认为是 sALS 的危险因素,即超氧化物歧化酶 1(SOD1)基因,其突变导致约 20%的 fALS。值得注意的是,SOD1 毒性可能发生在运动神经元和肌肉细胞中。我们使用在不同疾病阶段过度表达人突变 SOD1(mutSOD1)的小鼠腓肠肌发现,一组与肌肉萎缩相关的基因,如 MyoD、myogenin、atrogin-1 和转化生长因子(TGF)β1 的表达在症状前阶段就已经上调。wtSOD1 过表达的小鼠中 atrogin-1 基因的表达也增加了。在轴突切断的小鼠肌肉和培养的 ALS 成肌细胞模型中也发现了类似的改变。在这些 ALS 模型中,我们评估了合成 AAS 去甲雄酮对 ALS 肌肉中改变基因表达的药理学效应。去甲雄酮给药对 MyoD、myogenin 和 atrogin-1 的表达没有影响,但在疾病开始时显著增加了 TGFβ1 的表达。总之,这些数据表明,在 fALS 中,肌肉基因表达在早期阶段就发生了改变,AAS 可能会加重 SOD1 诱导的一些改变,可能也是 sALS 的一个促成因素。