Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.
Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.
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DOI：
10.1002/acn3.213
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发表时间：
2015-07
影响因子：
5.3
通讯作者：
Bugiani M
中科院分区：
文献类型：
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作者：
Klok MD;Bakels HS;Postma NL;van Spaendonk RM;van der Knaap MS;Bugiani M
Aicardi-Goutières综合征是一种伴有钙化和脑脊液干扰素-α增加的白质脑病。干扰素-α和脑病理学之间的关系知之甚少。我们报告一个病人的突变，在疾病相关基因SAMHD 1。神经病理学显示广泛的微血管病变，钙化始终与血管相关。在微血管病的体外模型中，干扰素-α增强了血管平滑肌细胞衍生的钙化。非梗死区的白色物质含有凋亡的少突胶质细胞，少突胶质细胞祖细胞数量增加。这些发现更好地定义了白色物质的病理学，并提供了证据表明干扰素-α在这种疾病典型的钙化血管病中起直接的致病作用。
Aicardi–Goutières syndrome is a leukoencephalopathy with calcifications and increased cerebrospinal fluid interferon-α. The relation between interferon-α and brain pathology is poorly understood. We report a patient with mutations in the disease-associated gene SAMHD1. Neuropathology showed an extensive microangiopathy with calcifications consistently associate with blood vessels. In an in vitro model of the microangiopathy, interferon-α enhanced vascular smooth muscle cell-derived calcifications. The noninfarcted white matter harbored apoptotic oligodendrocytes and increased numbers of oligodendrocyte progenitors. These findings better define the white matter pathology and provide evidence that interferon-α plays a direct pathogenetic role in the calcifying angiopathy typical of this disease.