Διατμηματικό / Διϊδρυτικό ΠΜΣ Μοριακή Ιατρική
Library of the School of Health Sciences

2015-11-30

2015

Χατζή Μαρία-Ζαχαρούλα

Ρεβέκκα Μάτσα, Ερευνήτρια Α', Ελληνικό Ινστιτούτο Παστέρ

Ιστολογική και ανοσοϊστοχημική μελέτη της παρεγκεφαλίδας στο SLC25-προκαλούμενο μοντέλο αταξίας στο ποντικό

Greek

In this thesis a disorder model in mouse, which resulted from a point mutation
in the gene Slc25a46, responsible for encoding a mitochondrial SLC25 carrier
was studied. This mouse model exhibits a phenotype of neurological disease,
which is inherited in an autosomal recessive manner and is characterized by
ataxia, episodic seizures with loss of consciousness, reduced growth and
premature mortality. The goal of this thesis was the histological and
immunohistochemical study of the cerebellum of mice bearing the mutation, to
detect the primary tissue damage that may be present and then the parallelism
of the pathology of the animal model with similar neurodegenerative diseases in
humans. The present study showed via histological stains, difference in size of
the cerebellum and brain of ataxic in comparison with the wild type mice, and
reduction in thickness of the molecular layer of the cerebellum. Also, through
immunofluorescentstaining, it revealed decreased expressionlevels of
molecules-markers ofcerebellar neurons, such as calcium-binding proteins
Calbindin D-28K and Parvalbumin of Purkinje cells and glutamate carriersvGlut1
and vGlut2 of excitatory fibersof tissue, and showed that the mutant SLC25A46
carrier exhibits a different distribution pattern than normal. Finally,this
study pointed out that cerebellar neurons of ataxic mice in primary cell
culture of 24 hours, have a slower rate of differentiation compared to wild
type. These results have led to the hypothesis of a possible malfunction of
synapsis between excitatory neurons and Purkinje cells in ataxic mice,resulting
to the abnormal function of the cerebellum.

SLC25 carrier, Ataxia, Epilepsy, Cerebellum, Immunohistochemistry

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Yes

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https://pergamos.lib.uoa.gr/uoa/dl/object/1312079