Roy Angshumoy, Lin Yi-Nan, Matzuk Martin M
Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.
J Clin Invest. 2006 Nov;116(11):2860-3. doi: 10.1172/JCI30221.
Lipid storage diseases are debilitating inherited metabolic disorders that stem from the absence of specific lysosomal enzymes that degrade selected lipids. Most characteristically, these disorders affect the nervous and the reticulo-endothelial systems, with massive organomegaly resulting from the presence of engorged, lipid-laden macrophages. In this issue of the JCI, Yildiz et al. describe the role of the ER-resident enzyme beta-glucosidase 2 (GBA2) in mice (see the related article beginning on page 2985). Surprisingly, GBA2 deficiency leaves bile acid and cholesterol metabolism intact, instead causing lipid accumulation in the ER of testicular Sertoli cells, round-headed sperm (globozoospermia), and impaired male fertility.
脂质贮积病是一类使人衰弱的遗传性代谢紊乱疾病，起因是缺乏降解特定脂质的特定溶酶体酶。最典型的是，这些疾病会影响神经和网状内皮系统，充满脂质的巨噬细胞会导致器官肿大。在本期《临床研究杂志》中，耶尔迪兹等人描述了内质网驻留酶β-葡萄糖苷酶2（GBA2）在小鼠中的作用（见第2985页开始的相关文章）。令人惊讶的是，GBA2缺乏症并未影响胆汁酸和胆固醇代谢，反而导致睾丸支持细胞内质网中脂质蓄积、圆头精子（球状精子症）以及男性生育能力受损。
