Department of Neurology, Teikyo University Chiba Medical Center, Ichihara, Japan.
Acta Neurol Scand. 2013 Oct;128(4):257-64. doi: 10.1111/ane.12114. Epub 2013 Mar 1.
The fused in sarcoma (FUS) protein is a 526 amino acid and its expression is ubiquitous. Recently, mutations in a gene coding FUS have been identified in familial amyotrophic lateral sclerosis (ALS). Also, FUS has been found in neuronal cytoplasmic inclusions in sporadic forms of ALS, suggesting that FUS has an important role in the neurodegeneration occurring in sporadic disease. However, there has been no study of FUS in ALS skin.
We made a quantitative immunohistochemical study of the expression of FUS in the skin from patients with sporadic ALS and controls.
The proportion of FUS-immunoreactive (ir) cells in the epidermis in ALS patients was significantly higher (P < 0.001) than in controls. There was a significant positive relationship (r = 0.78, P < 0.001) between the proportion and duration of illness in ALS patients. The optical density of FUS-ir cells in the epidermis in ALS patients is markedly stronger (P < 0.001) than in controls. There was a significant positive relation (r = 0.49, P < 0.05) between the immunoreactivity and duration of illness in ALS patients.
These data suggest that changes of FUS in ALS skin are related to the disease process, and that metabolic alterations of FUS may take place in the skin of patients with ALS.
融合肉瘤（FUS）蛋白由 526 个氨基酸组成，其表达普遍存在。最近，在家族性肌萎缩侧索硬化症（ALS）的一个基因编码 FUS 中发现了突变。此外，在散发性 ALS 的神经元细胞质包涵体中也发现了 FUS，这表明 FUS 在散发性疾病中的神经退行性变中具有重要作用。然而，目前还没有关于 ALS 皮肤中 FUS 的研究。
我们对散发性 ALS 患者和对照组皮肤中的 FUS 表达进行了定量免疫组织化学研究。
与对照组相比，ALS 患者表皮中 FUS 免疫反应性（ir）细胞的比例明显升高（P < 0.001）。ALS 患者中比例与病程之间存在显著正相关关系（r = 0.78，P < 0.001）。ALS 患者表皮中 FUS-ir 细胞的光密度明显强于对照组（P < 0.001）。ALS 患者的免疫反应性与病程之间存在显著正相关关系（r = 0.49，P < 0.05）。
这些数据表明，ALS 皮肤中 FUS 的变化与疾病过程有关，并且 FUS 的代谢改变可能发生在 ALS 患者的皮肤中。
