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Title: The use of microarrays for expression profiling studies of peripheral blood leukocytes in evaluation of Myoclonus-Dystonia pathomechanism

Abstract:

Myoclonus-dystonia syndrome (M-D, DYT-SGCE, DYT11) is a rare movement disorder characterized by dystonic movements and myoclonic jerks usually involving the arms and axial muscles. In the majority of cases, M-D is caused by mutations in epsilon-sarcoglycan gene (SGCE). The low percentage of detected mutations in M-D patients confirmed in our study, together with the indeterminate cause of disease and, clinical and genetic heterogeneity, requires effective methods for detecting the genes panel that lead to M-D development.Studies conducted in the framework of this dissertation are an attempt to define the role of these factors. Patients (n=55) from several neurological centers in Poland were enrolled into the study, based on M-D clinical criteria. Analysis techniques included expression microarrays, direct sequencing, Real-Time PCR and bioinformatics analysis with Partek GS and DAVID KEGG. It has been shown that potential association with the disease process, may have genes involved in vesicles transport and focal adhesion as well as SV2C, SPIRE and ECM receptor genes. The study results are a likely starting point for further research on myoclonus-dystonia.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

genetyka ; neurologia

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Jacek J. Pietrzyk

Date issued:

2015

Format:

application/pdf

Identifier:

oai:dl.cm-uj.krakow.pl:4050

Call number:

ZB-123683

ControlNumberVIRTUA:

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Language:

pol

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Object collections:

Last modified:

May 24, 2021

In our library since:

Apr 8, 2016

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Number of object content views in PDF format

2

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/4050

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ZB-123683 May 24, 2021
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