Brain lipid profiling of triply mouse model with the deficiencies of sialidase neu1, neu4 and ß-hexosaminidase a enzymes
by
Pekmezci, Zehra Kevser.
Title
:
Brain lipid profiling of triply mouse model with the deficiencies of sialidase neu1, neu4 and ß-hexosaminidase a enzymes
Author
:
Pekmezci, Zehra Kevser.
Personal Author
:
Pekmezci, Zehra Kevser.
Publication Information
:
[s.l.]: [s.n.], 2011.
Physical Description
:
xi, 61 leaves. : ill. + 1 computer laser optical disk.
Abstract
:
Tay-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.
Subject Term
:
Tay-Sachs disease.
Gangliosides.
Neurasthenia.
Mice as laboratory animals.
Thin layer chromatography.
Added Author
:
Seyrantepe, Volkan.
Added Corporate Author
:
İzmir Institute of Technology. Molecular Biology and Genetics.
Added Uniform Title
:
Thesis (Master)--İzmir Institute of Technology: Molecular Biology and Genetics.
İzmir Institute of Technology: Molecular Biology and Genetics.--Thesis (Master).
Electronic Access
:
Library | Material Type | Item Barcode | Shelf Number | Status |
---|
IYTE Library | Thesis | T001004 | QP752.G3 P379 2011 | Tez Koleksiyonu |
IYTE Library | Supplementary CD-ROM | ROM1887 | QP752.G3 P379 2011 EK.1 | Tez Koleksiyonu |