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PMID 27788151
Gene Name SGMS1
Condition Male infertility
Association Associated
Sex Male
Infertility type Male infertility
Other associated phenotypes Male infertility


Sphingomyelin Synthase 1 Is Essential for Male Fertility in Mice

Wittmann A, Grimm MO, Scherthan H, Horsch M, Beckers J, Fuchs H, Gailus-Durner V, Hrab? de Angelis M, Ford SJ, Burton NC, Razansky D, Trümbach D, Aichler M, Walch AK, Calzada-Wack J, Neff F, Wurst W, Hartmann T, Floss T.

Sphingolipids and the derived gangliosides have critical functions in spermatogenesis, thus mutations in genes involved in sphingolipid biogenesis are often associated with male infertility. We have generated a transgenic mouse line carrying an insertion in the sphingomyelin synthase gene Sms1, the enzyme which generates sphingomyelin species in the Golgi apparatus. We describe the spermatogenesis defect of Sms1-/- mice, which is characterized by sloughing of spermatocytes and spermatids, causing progressive infertility of male homozygotes. Lipid profiling revealed a reduction in several long chain unsaturated phosphatidylcholins, lysophosphatidylcholins and sphingolipids in the testes of mutants. Multi-Spectral Optoacoustic Tomography indicated blood-testis barrier dysfunction. A supplementary diet of the essential omega-3 docosahexaenoic acid and eicosapentaenoic acid diminished germ cell sloughing from the seminiferous epithelium and restored spermatogenesis and fertility in 50% of previously infertile mutants. Our findings indicate that SMS1 has a wider than anticipated role in testis polyunsaturated fatty acid homeostasis and for male fertility. FAU - Wittmann, Anke AU - Wittmann A AD - Helmholtz Zentrum München, Institute of Developmental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Grimm, Marcus O W AU - Grimm MO AD - Saarland University, Experimentelle Neurologie, 66424 Homburg/Saar; Germany. FAU - Scherthan, Harry AU - Scherthan H AD - Institut für Radiobiologie der Bundeswehr in Verb. mit der Univ. Ulm, 80937 Munich, Germany. FAU - Horsch, Marion AU - Horsch M AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Beckers, Johannes AU - Beckers J AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. AD - Technische Universität München, Co Helmholtz-Zentrum München. FAU - Fuchs, Helmut AU - Fuchs H AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Gailus-Durner, Valerie AU - Gailus-Durner V AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Hrabě de Angelis, Martin AU - Hrabě de Angelis M AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. AD - Technische Universität München, Co Helmholtz-Zentrum München. FAU - Ford, Steven J AU - Ford SJ AD - Institute for Biological and Medical Imaging, Helmholtz Zentrum München and Technische Universität München, 85764 Neuherberg, Germany. FAU - Burton, Neal C AU - Burton NC AD - Institute for Biological and Medical Imaging, Helmholtz Zentrum München and Technische Universität München, 85764 Neuherberg, Germany. FAU - Razansky, Daniel AU - Razansky D AD - Institute for Biological and Medical Imaging, Helmholtz Zentrum München and Technische Universität München, 85764 Neuherberg, Germany. FAU - Trümbach, Dietrich AU - Trümbach D AD - Helmholtz Zentrum München, Institute of Developmental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Aichler, Michaela AU - Aichler M AD - Helmholtz Zentrum München, Research Unit Analytical Pathology, Institute of Pathology, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany. FAU - Walch, Axel Karl AU - Walch AK AD - Helmholtz Zentrum München, Research Unit Analytical Pathology, Institute of Pathology, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany. FAU - Calzada-Wack, Julia AU - Calzada-Wack J AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Pathology, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Neff, Frauke AU - Neff F AD - Helmholtz Zentrum München, German Mouse Clinic, Institute of Pathology, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. FAU - Wurst, Wolfgang AU - Wurst W AD - Helmholtz Zentrum München, Institute of Developmental Genetics, Ingolstädter Landstrasse 1, 85764 Neuherberg, Germany. AD - Technische Universität München, Co Helmholtz-Zentrum München. AD - Deutsches Zentrum für Neurodegenerative Erkrankungen e.V. (DZNE), Site Munich, Schillerstrasse 44, 80336 München, Germany. AD - Max-Planck-Institute of Psychiatry, Kraepelinstr. 2-10, 80804 München, Germany. FAU - Hartmann, Tobias AU - Hartmann T AD - Saarland University, Experimentelle Neurologie, 66424 Homburg/Saar; Germany.