Investigating the biological role of sialidase Neu4 and GM3 synthase enzymes in a mouse model of Tay-Sachs disease için kapak resmi
Investigating the biological role of sialidase Neu4 and GM3 synthase enzymes in a mouse model of Tay-Sachs disease
Başlık:
Investigating the biological role of sialidase Neu4 and GM3 synthase enzymes in a mouse model of Tay-Sachs disease
Yazar:
Barnar, Talha, author.
Yazar Ek Girişi:
Fiziksel Tanımlama:
xi, 71 leaves: illustrarions, charts;+ 1 computer laser optical disc.
Özet:
β-Hexaminidase A which has role in GM2 degradation in glycosphingolipid pathway is known to be main enzyme for Tay-Sachs disease. Although recessive mutant phenotype of this enzyme causes disease in human, Hexa gene knockout mice show less accumulation of GM2 ganglioside than human. To avoid excess GM2 accumulation, mice uses neuraminidases convert GM2 into GA2. In addition, among neuraminidases, it has been found that Neu4-/-Hexa-/- mice can be good model for Tay-Sachs diseases (Seyrantepe et al., 2010). On the other hand, to prevent GM2 accumulation, blocking GM3 synthase is the finest method because GM3 synthase plays a big part in ganglioside synthesis pathway by producing GM3 that is later converted into GM2 or GD3 ganglioside. In addition, GM3 synthase deficient mice can live longer than 1 year. In this study, Hexa-/-GM3S-/-Neu4-/- mice with single and double variants were produced and brain regions were analyzed with thin-layer chromatography, immunohistochemistry, and real-time PCR methods. This investigation was conducted to clarify real function of GM3S on Tay-Sachs mice model and to search for possible effects of Neu4 in ganglioside pathway. Although GM2 accumulation are present in Hexa-/- and Neu4-/-Hexa-/-mice, analysis of Hexa-/-GM3S-/-Neu4-/-and Hexa-/-GM3S-/- mice revealed that there is no GM2 accumulation without GM3 synthase enzyme. These results are consistent with known ganglioside synthesis pathway. Hexa-/-GM3S-/-Neu4-/- and double deficient Neu4-/-mice variants disclosed change of Neu3 and Neu2 concentration to the wild type mice. In regard of these results, change in other neuraminidase expression is to compensate Neu4 function. Key Words: GM3 synthase, GM2 ganglioside, Neuraminidase, Sialidase, Hexaminidase, Mice.
Konu Başlığı:

Yazar Ek Girişi:
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:
Access to Electronic Versiyon.
Ayırtma: Copies: