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dc.contributor.advisorSeyrantepe, Volkanen
dc.contributor.authorPekmezci, Zehra Kevseren
dc.date.accessioned2014-07-22T13:51:02Z
dc.date.available2014-07-22T13:51:02Z
dc.date.issued2011en
dc.identifier.urihttp://hdl.handle.net/11147/3185
dc.descriptionThesis (Master)--Izmir Institute of Technology, Molecular Biology and Genetics, Izmir, 2011en
dc.descriptionIncludes bibliographical references (leaves: 41-61)en
dc.descriptionText in English; Abstract: Turkish and Englishen
dc.descriptionxi, 61 leavesen
dc.description.abstractTay-Sachs disease is a severe lysosomal storage disorder caused by mutations in the HEXA gene coding for α subunit of lysosomal β-hexosaminidase A enzyme, which converts GM2 to GM3 ganglioside. HexA-/- mice, depleted of β-hexosaminidase A enzyme, remain asymptomatic to 1 year of age, so it was thought there is a difference between human and mice lipid degradation. Previously identified a novel ganglioside metabolizing sialidase, Neu4, is abundantly expressed in mouse brain neurons. It was demonstrated that mice with targeted disruption of both HexA and Neu4 genes (HexA-/- Neu4-/-) show accumulating GM2 ganglioside and epileptic seizures with 40% penetrance. Since all mice didn't show symptoms, it was suggested that Neu4 is not the only sialidase contributing to the metabolic bypass in HexA-/- mice (Seyrantepe et al. 2010). Therefore, we studied the role of another sialidase Neu 1 in glycolipid degradation. We profiled brain glycolipid content of triple deficient mouse model with the deficiency of β-hexosaminidase A (0% activity), sialidase Neu4 (0% activity) and sialidase Neu 1 (10% activity) (NeoIn) by thin layer chromatography. Analysis of both double (HexA-/-NeoIn-/-) and triple (HexA-/-Neu4-/-NeoIn-/-) mice models showed that sialidase Neu 1 deficency causes not significant difference in brain lipid profile and though also other sialidase/sialidases might have role in glycolipid degradation pathway in mice.en
dc.language.isoengen
dc.publisherIzmir Institute of Technologyen
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject.lcshTay-Sachs diseaseen
dc.subject.lcshGangliosidesen
dc.subject.lcshNeurastheniaen
dc.subject.lcshMice as laboratory animalsen
dc.subject.lcshThin layer chromatographyen
dc.titleBrain lipid profiling of triply mouse model with the deficiencies of sialidase neu1, neu4 and β-hexosaminidase a enzymesen
dc.typemasterThesisen
dc.contributor.departmentIzmir Institute of Technology. Molecular Biology and Geneticsen
dc.relation.publicationcategoryTezen_US


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