Reuser A J, Kroos M A, Visser W J, Willemsen R
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.
Ann Biol Clin (Paris). 1994;52(10):721-8.
Lysosomal storage diseases are genetically determined metabolic diseases characterized by dysmorphology and dysfunction of the lysosomal system. The lysosomal pathology can have different causes; these are (i) the deficiency of a lysosomal enzyme or subunit thereof, (ii) the deficiency of a protein assisting one or more lysosomal enzymes in their catalytic function by activation and/or stabilization, or by substrate presentation, (iii) the deficiency or dysfunction of a lysosomal membrane carrier protein essential for the export of degradation products from the lysosomal interior to the cytoplasm or, (iiii) defective targeting of lysosomal proteins to the lysosomes. This excerpt of an oral presentation given at Eurolab 93 starts with a general introduction on lysosomes and lysosomal storage diseases and devotes attention to current issues in this field.
溶酶体贮积症是由基因决定的代谢性疾病，其特征为溶酶体系统的形态异常和功能障碍。溶酶体病理可能有不同原因；这些原因包括：（i）溶酶体酶或其亚基的缺乏，（ii）通过激活和/或稳定作用或通过底物呈递协助一种或多种溶酶体酶发挥催化功能的蛋白质的缺乏，（iii）对于将降解产物从溶酶体内部输出到细胞质至关重要的溶酶体膜载体蛋白的缺乏或功能障碍，或（iiii）溶酶体蛋白靶向溶酶体的缺陷。在欧洲实验室93会议上进行的这次口头报告的节选部分首先对溶酶体和溶酶体贮积症进行了总体介绍，并关注了该领域的当前问题。
