Shayman James A, Abe Akira
Department of Internal Medicine, University of Michigan Medical School, University of Michigan, Ann Arbor, MI 48109, USA.
Biochim Biophys Acta. 2013 Mar;1831(3):602-11. doi: 10.1016/j.bbalip.2012.08.013. Epub 2012 Aug 30.
There is a strong association between lysosome enzyme deficiencies and monogenic disorders resulting in lysosomal storage disease. Of the more than 75 characterized lysosomal proteins, two thirds are directly linked to inherited diseases of metabolism. Only one lysosomal storage disease, Niemann-Pick disease, is associated with impaired phospholipid metabolism. However, other phospholipases are found in the lysosome but remain poorly characterized. A recent exception is lysosomal phospholipase A2 (group XV phospholipase A2). Although no inherited disorder of lysosomal phospholipid metabolism has yet been associated with a loss of function of this lipase, this enzyme may be a target for an acquired form of lysosomal storage, drug induced phospholipidosis. This article is part of a Special Issue entitled Phospholipids and Phospholipid Metabolism.
溶酶体酶缺陷与导致溶酶体贮积病的单基因疾病之间存在密切关联。在已鉴定的75多种溶酶体蛋白中,三分之二与遗传性代谢疾病直接相关。只有一种溶酶体贮积病,即尼曼-匹克病,与磷脂代谢受损有关。然而,其他磷脂酶也存在于溶酶体中,但对其特性的了解仍然很少。最近的一个例外是溶酶体磷脂酶A2(第十五组磷脂酶A2)。虽然尚未发现溶酶体磷脂代谢的遗传性疾病与这种脂肪酶的功能丧失有关,但这种酶可能是获得性溶酶体贮积形式——药物诱导的磷脂沉积症的一个靶点。本文是名为“磷脂与磷脂代谢”的特刊的一部分。