Shaping the sperm head: an ER enzyme leaves its mark
Angshumoy Roy, … , Yi-Nan Lin, Martin M. Matzuk
Angshumoy Roy, … , Yi-Nan Lin, Martin M. Matzuk
Published November 1, 2006
Citation Information: J Clin Invest. 2006;116(11):2860-2863. https://doi.org/10.1172/JCI30221.
View: Text | PDF
Commentary

Shaping the sperm head: an ER enzyme leaves its mark

Abstract

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 β-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.

Authors

Angshumoy Roy, Yi-Nan Lin, Martin M. Matzuk

×

Figure 2

Different consequences of GBA and GBA2 deficiency.

Options: View larger image (or click on image) Download as PowerPoint
Different consequences of GBA and GBA2 deficiency. (A) In patients with ...
(A) In patients with Gaucher’s disease, GBA deficiency leads to lysosomal accumulation of glucosylceramide and engorged hepatic and splenic macrophages. (B) In contrast, deficiency of GBA2 in mice leads to accumulation of lipid vesicles in testicular Sertoli cells. Dysmorphic round-headed sperm lacking acrosomes are produced in Gba2-null mouse testis compared with the normal falciform sperm heads in wild-type testis.