Astrocytes and lysosomal storage diseases.
Astrocytes and lysosomal storage diseases.
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DOI：
10.1016/j.neuroscience.2015.05.061
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发表时间：
2016-05-26
期刊：
影响因子：
3.3
通讯作者：
Kielian T
中科院分区：
文献类型：
--
作者：
Rama Rao KV;Kielian T
溶酶体贮积症（LSD）涵盖多种以溶酶体功能先天性缺陷为特征的疾病。大多数LSD是由溶酶体酶的遗传缺陷引起的，尽管有些是由缺乏已知酶活性的溶酶体蛋白突变引起的。神经病理学异常是多种 LSD 的一个特征，严重时是疾病结果的重要决定因素。在许多 LSD 中也观察到神经胶质功能障碍，特别是星形胶质细胞的功能障碍，并被认为会影响神经退行性变。这篇综述将讨论星形胶质细胞在 LSD 中的潜在作用，并强调以神经胶质细胞为靶标作为对抗 LSD 相关神经病理学的有益策略的可能性。
Lysosomal storage diseases (LSDs) encompass a wide range of disorders characterized by inborn errors of lysosomal function. The majority of LSDs result from genetic defects in lysosomal enzymes, although some arise from mutations in lysosomal proteins that lack known enzymatic activity. Neuropathological abnormalities are a feature of several LSDs and when severe, represent an important determinant in disease outcome. Glial dysfunction, particularly in astrocytes, is also observed in numerous LSDs and has been suggested to impact neurodegeneration. This review will discuss the potential role of astrocytes in LSDs and highlight the possibility of targeting glia as a beneficial strategy to counteract the neuropathology associated with LSDs.