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Uporaba genske terapije za zdravljenje Parkinsonove bolezni pri človeku
ID Jerič, Urška (Author), ID Petrovič, Uroš (Mentor) More about this mentor... This link opens in a new window

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Abstract
Parkinsonova bolezen je kronično progresivna nevrodegenerativna bolezen, za katero je značilen propad dopaminskih nevronov v črni substanci. Ta do bazalnih ganglijev, ki zagotavljajo tekoče izvajanje gibov in preprečujejo nastanek nehotenih gibov, dovaja kemično snov, imenovano dopamin. Parkinsonova bolezen se pojavi, ker je oskrba z dopaminom oslabljena oziroma prekinjena. Njegovo pomanjkanje vodi do klasičnih motoričnih znakov in simptomov Parkinsonove bolezni, kot so počasnost in majhnost gibov, motnje ravnotežja in hoje, togost, tremor, povišan mišični tonus in kasneje v poteku bolezni še posturalna nestabilnost, pojavijo pa se lahko tudi številni nemotorični simptomi. Parkinsonova bolezen je kompleksna poligenska bolezen, vzrok za njen nastanek pa zaenkrat še ni popolnoma znan. K nastanku doprinese kombinacija genetskih in okolijskih dejavnikov, zato poteka bolezni ne znamo točneje napovedati. Najpomembnejši dejavnik tveganja za nastanek Parkinsonove bolezni je starost. Zdravila, s katerim bi jo ozdravili, trenutno žal ne poznamo, obstaja pa več vrst zdravil, ki lajšajo simptome. Ker torej farmakološko zdravljenje same bolezni dejansko ne zdravi oziroma ne upočasnjuje njenega napredovanja, se zadnje čase veliko raziskuje na področju alternativnih zdravljenj s pomočjo genske terapije, s katero z vnosom specifičnega terapevtskega gena v tarčne celice preprečimo ali vsaj upočasnimo potek bolezni. Trenutno so bile razvite in ovrednotene tri strategije: povečanje sinteze dopamina, izražanje trofičnih dejavnikov in nevromodulacija.

Language:Slovenian
Keywords:nevrodegenerativne bolezni, Parkinsonova bolezen, genska terapija
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:BF - Biotechnical Faculty
Place of publishing:Ljubljana
Publisher:[U. Jerič]
Year:2022
PID:20.500.12556/RUL-138153 This link opens in a new window
UDC:606:616.858(043.2)
COBISS.SI-ID:114929667 This link opens in a new window
Publication date in RUL:12.07.2022
Views:718
Downloads:82
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Secondary language

Language:English
Title:The use of gene therapy for a treatment of Parkinson's disease in humans
Abstract:
Parkinson's disease is a chronically progressive neurodegenerative disease, characterized by the breakdown of dopaminergic neurons in the substantia nigra. It delivers a chemical called dopamine to the basal ganglia, which ensure smooth movement and prevent involuntary movements. Parkinson's disease occurs because the supply of dopamine is weakened or interrupted. Its deficiency leads to classic motor signs and symptoms of Parkinson's disease, such as slowness and smallness of movement, balance and gait disorders, stiffness, tremor, increased muscle tone and postural instability, and also many non-motor symptoms. Parkinson's disease is a complex polygenic disease, and the cause of its occurrence is not yet fully known. A combination of genetic and environmental factors contributes to the disease, so the exact profression of the disease cannot exactly be predicted. The most important risk factor for Parkinson's disease is age. Unfortunately, we do not currently know the cure for Parkinson's disease, but several types of medicines that relieve its symptoms do exist. However, since pharmacological treatment of the disease itself does not actually cure or slow its progression, a number of studies have recently been performed in the field of alternative therapies, with the aim to introduce a specific therapeutic gene into target cells. Currently, three strategies have been developed and evaluated: increase dopamine synthesis, expression of trophic factors, and neuromodulation.

Keywords:neurodegenerative diseases, Parkinson's disease, gene therapy

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