Inherited disorders of lysosomal membrane transporters.,Biochimica et Biophysica Acta (BBA) - Biomembranes

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Inherited disorders of lysosomal membrane transporters.
Biochimica et Biophysica Acta (BBA) - Biomembranes ( IF 2.8 ) Pub Date : 2020-05-07 , DOI: 10.1016/j.bbamem.2020.183336
Marjan Huizing ₁ , William A Gahl ₁

Affiliation

Disorders caused by defects in lysosomal membrane transporters form a distinct subgroup of lysosomal storage disorders (LSDs). To date, defects in only 10 lysosomal membrane transporters have been associated with inherited disorders. The clinical presentations of these diseases resemble the phenotypes of other LSDs; they are heterogeneous and often present in children with neurodegenerative manifestations. However, for pathomechanistic and therapeutic studies, lysosomal membrane transport defects should be distinguished from LSDs caused by defective hydrolytic enzymes. The involved proteins differ in function, localization, and lysosomal targeting, and the diseases themselves differ in their stored material and therapeutic approaches. We provide an overview of the small group of disorders of lysosomal membrane transporters, emphasizing discovery, pathomechanism, clinical features, diagnostic methods and therapeutic aspects. We discuss common aspects of lysosomal membrane transporter defects that can provide the basis for preclinical research into these disorders.

中文翻译：

溶酶体膜转运蛋白的遗传性疾病。

由溶酶体膜转运蛋白缺陷引起的疾病形成溶酶体贮积症 (LSD) 的一个独特亚组。迄今为止，只有 10 种溶酶体膜转运蛋白的缺陷与遗传性疾病有关。这些疾病的临床表现与其他 LSD 的表型相似；它们是异质的，并且经常出现在有神经退行性表现的儿童中。然而，对于病理机制和治疗研究，溶酶体膜转运缺陷应与水解酶缺陷引起的 LSD 区分开来。所涉及的蛋白质在功能、定位和溶酶体靶向方面有所不同，并且疾病本身在其储存物质和治疗方法方面也有所不同。我们对一小类溶酶体膜转运蛋白疾病进行了概述，强调发现、病理机制、临床特征、诊断方法和治疗方面。我们讨论溶酶体膜转运蛋白缺陷的常见方面，可以为这些疾病的临床前研究提供基础。

更新日期：2020-05-08

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