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Genome-wide expression profiling analysis of a Sphingomyelin Synthase 1 mutant mouse model

ABSTRACT: Lysosomal storage diseases are congenital lipid metabolism disorders, often accompaning by male infertility. Sms1, the enzyme, that generates sphingomyelin from ceramides seems to be involved in spermatogeneis and spermiogenesis. Therefore, testis but also muscle and brain of a mouse line carrying an insertional mutation in Sms1 were analysed.

ORGANISM(S): Mus musculus

PROVIDER: GSE37359 | GEO | 2013/01/01

SECONDARY ACCESSION(S): PRJNA159903

REPOSITORIES: GEO

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Genome-wide expression profiling analysis of a Sphingomyelin Synthase 1 mutant mouse model

Project description:Lysosomal storage diseases are congenital lipid metabolism disorders, often accompaning by male infertility. Sms1, the enzyme, that generates sphingomyelin from ceramides seems to be involved in spermatogeneis and spermiogenesis. Therefore, testis but also muscle and brain of a mouse line carrying an insertional mutation in Sms1 were analysed. Total RNA obtained from 4 male mutant mice was compared to four wild type controls.

2013-01-01 | E-GEOD-37359 | biostudies-arrayexpress

Colon epithelial cells gene expression data of Sphingomyelin synthase 2 knockout colitis mice

Project description:Sphingomyelin synthase (SMS) 2 is the synthetic enzyme of sphingomyelin (SM), which regulates the fluidity and microdomain structure of the plasma membrane. We investigated the effect of SMS2 deficiency on dextran sodium sulfate (DSS)-induced murine colitis, and found suppression of DSS-induced inflammation in SMS2 deficient (SMS2-/-) mice. Results provide insight into the role of SMS2 in inflammation.

2017-03-31 | GSE94624 | GEO

Pseudomonas aeruginosa PAO1 response to sphingomyelin

Project description:Analysis of Pseudomonas aeruginosa PAO1 treated with 200 µM sphingomyelin. Results provide insight into the response to sphingomyelin in P. aeruginosa.

2017-02-12 | GSE83078 | GEO

Massive accumulation of sphingomyelin affects the lysosomal and mitochondria compartments and promotes apoptosis in type A Niemann- Pick disease

Project description:Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase (ASM). ASM deficiency leads to the consequent accumulation of its uncatabolized substrate, the sphingolipid sphingomyelin (SM), causing severe progressive brain disease. To study the effect of the aberrant lysosomal accumulation of SM on cell homeostasis we loaded skin fibroblasts derived from a NPA patient with exogenous SM to mimic the levels of accumulation characteristic of the pathological neurons. In SM-loaded NPA fibroblasts we found the blockage of the autophagy flux and the impairment of the mitochondrial compartment paralleled by the altered transcription of several genes, mainly belonging to the electron transport chain machinery and to the cholesterol biosynthesis pathway. In addition, SM loading induces the nuclear translocation of the transcription factor EB that promotes the lysosomal biogenesis and exocytosis. Interestingly, we obtained similar biochemical findings in the brain of the NPA mouse model lacking ASM (ASMKO mouse) at the neurodegenerative stage. Our work provides a new in vitro model to study NPA etiopathology and suggests the existence of a pathogenic lysosome-plasma membrane axis that with an impairment in the mitochondrial activity is responsible for the cell death.

2022-07-27 | GSE199194 | GEO

Effect of Sphingomyelin d18:1/14:0 (S14) on gene expression in macrophages

Project description:We compared the effect of Sphingomyelin d18:1/14:0 (S14) and Lipopolysaccharide (LPS) on the gene expression in mouse macrophages at different timepoints

2023-03-31 | GSE221910 | GEO

Sphingomyelin synthase–related protein SMSr is a phosphatidylethanolamine phospholipase C protein that promotes nonalcoholic fatty liver disease

Project description:Sphingomyelin synthase (SMS)–related protein (SMSr) is a phosphatidylethanolamine phospholipase C (PE-PLC) molecule that is conserved and ubiquitous in mammals. However, its biological function is still not clear. We previously observed that SMS1 deficiency–mediated glucosylceramide accumulation caused nonalcoholic fatty liver diseases (NAFLD), including nonalcoholic steatohepatitis (NASH) and liver fibrosis. Here, first, we evaluated high-fat diet/fructose-induced NAFLD in Smsr knock out (KO) and WT mice. Second, we evaluated whether SMSr deficiency can reverse SMS1 deficiency-mediated NAFLD, using Sms1/Sms2 double and Sms1/Sms2/Smsr triple KO mice. We found that SMSr/PE-PLC deficiency attenuated high-fat diet/fructoseinduced fatty liver and NASH, and attenuated glucosylceramide accumulation-induced NASH, fibrosis, and tumor formation. Further, we found that SMSr/PE-PLC deficiency reduced the expression of many inflammatory cytokines and fibrosis-related factors, and PE supplementation in vitro or in vivo mimicked the condition of SMSr/PE-PLC deficiency. Furthermore, we demonstrated that SMSr/PEPLC deficiency or PE supplementation effectively prevented membrane-bound βcatenin transfer to the nucleus, thereby preventing tumor-related gene expression. Finally, we observed that patients with NASH had higher SMSr protein levels in the liver, lower plasma PE levels, and lower plasma PE/phosphatidylcholine (PC) ratios, and that human plasma PE levels are negatively associated with TNF-α and TGFβ1 levels. In conclusion, SMSr/PE-PLC deficiency causes PE accumulation, which can attenuate fatty liver, NASH, and fibrosis. These results suggest that SMSr/PE-PLC inhibition therapy may mitigate NAFLD.

2023-08-17 | GSE241036 | GEO