Brain lipid profiling of triply mouse model with the deficiencies of sialidase neu1, neu4 and ß-hexosaminidase a enzymes
tarafından
Pekmezci, Zehra Kevser.
Başlık
:
Brain lipid profiling of triply mouse model with the deficiencies of sialidase neu1, neu4 and ß-hexosaminidase a enzymes
Yazar
:
Pekmezci, Zehra Kevser.
Yazar Ek Girişi
:
Pekmezci, Zehra Kevser.
Yayın Bilgileri
:
[s.l.]: [s.n.], 2011.
Fiziksel Tanımlama
:
xi, 61 leaves. : ill. + 1 computer laser optical disk.
Özet
:
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.
Konu Başlığı
:
Tay-Sachs disease.
Gangliosides.
Neurasthenia.
Mice as laboratory animals.
Thin layer chromatography.
Yazar Ek Girişi
:
Seyrantepe, Volkan.
Tüzel Kişi Ek Girişi
:
İzmir Institute of Technology. Molecular Biology and Genetics.
Tek Biçim Eser Adı
:
Thesis (Master)--İzmir Institute of Technology: Molecular Biology and Genetics.
İzmir Institute of Technology: Molecular Biology and Genetics.--Thesis (Master).
Elektronik Erişim
:
Library | Materyal Türü | Demirbaş Numarası | Yer Numarası | Durumu/İade Tarihi |
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IYTE Library | Tez | T001004 | QP752.G3 P379 2011 | Tez Koleksiyonu |