Yamamoto Yumi, Ihara Masafumi
Department of Regenerative Medicine and Tissue Engineering, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.
Department of Neurology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishirodai, Suita, Osaka, 565-8565, Japan.
Neurochem Int. 2017 Jul;107:211-218. doi: 10.1016/j.neuint.2016.12.003. Epub 2016 Dec 26.
Cerebral small vessel disease (SVD) is not only one of the leading causes of cognitive impairment but also an important contributory factor in Alzheimer's disease. SVD and related white matter changes are common in the elderly, but the underlying pathogenic mechanism remains unclear. The end-stage pathology of SVD often involves replacement of vascular smooth muscle cells with collagenous or other nontensile fibrillary material. Recent studies on hereditary SVD have revealed a close relationship between small vessel pathology and disruption of transforming growth factor-β (TGF-β) superfamily signaling. TGF-β superfamily members, such as TGF-β and bone morphogenetic proteins, are multifunctional proteins that regulate production of extracellular matrix proteins, which in turn control the bioavailability of TGF-β superfamily members and modulate their signaling activities. This article reviews hereditary disorders with small vessel pathology and their relation to TGF-β superfamily signaling.
脑小血管病（SVD）不仅是认知障碍的主要原因之一，也是阿尔茨海默病的一个重要促成因素。SVD及相关的白质改变在老年人中很常见，但其潜在的致病机制仍不清楚。SVD的终末期病理通常涉及血管平滑肌细胞被胶原或其他非拉伸性纤维材料替代。最近对遗传性SVD的研究揭示了小血管病理与转化生长因子-β（TGF-β）超家族信号传导破坏之间的密切关系。TGF-β超家族成员，如TGF-β和骨形态发生蛋白，是多功能蛋白质，可调节细胞外基质蛋白的产生，进而控制TGF-β超家族成员的生物利用度并调节其信号传导活性。本文综述了伴有小血管病理的遗传性疾病及其与TGF-β超家族信号传导的关系。
