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Molekularno-genetske metode za diagnostiko amiotrofične lateralne skleroze in frontotemporalne demence.
ID Anžur, Tihomir (Author), ID Rogelj, Boris (Mentor) More about this mentor... This link opens in a new window, ID Motaln, Helena (Co-mentor)

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Abstract
Nevrodegenerativne bolezni se pogosto dojemajo kot bolezni sodobnega časa, vendar njihove prve opise in diagnoze zasledimo že v 19. stoletju. Med glavne dejavnike tveganja teh bolezni štejemo starost. Z višanjem življenjske dobe svetovne populacije se povečuje tudi delež obolelih za nevrodegenerativnimi boleznimi, vključno z deležem obolelih za ALS in FTD. Gre za kompleksni bolezni propadanja nevronov, ki se najpogosteje pojavita med 50. in 70. letom starosti. Vse več odkritij nakazuje, da sta ti dve stanji le dva fenotipska ekstrema ene bolezni. C9orf72, TARDBP in FUS so geni, ki jih najpogosteje povezujemo z ALS in FTD. Njihove mutacije porušijo homeostazo živčnih celic na različnih nivojih, predvsem z izgubo funkcije uravnavanja delovanja RNA. Eden od skupnih patoloških znakov teh dveh bolezni je tvorba in kopičenje toksičnih proteinskih agregatov v živčnih celicah, ki povzročijo njihov propad. Posledice so nepovratne, zato je zgodnja diagnoza ključna za lajšanje ali celo preprečevanje nastanka ALS in FTD. Razvoj molekularne diagnostike omogoča bolj natančne diagnoze in odkrivanje ALS in FTD v zgodnejših stadijih.

Language:Slovenian
Keywords:ALS, FTD, TDP-43, C9orf72, FUS, iPSCs, molekularna diagnostika
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:BF - Biotechnical Faculty
Publisher:[T. Anžur]
Year:2020
PID:20.500.12556/RUL-120295 This link opens in a new window
UDC:601.4:577.21:616-076.5:616.8(043.2)
COBISS.SI-ID:32263939 This link opens in a new window
Publication date in RUL:18.09.2020
Views:1543
Downloads:162
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Secondary language

Language:English
Title:Molecular genetic methods for diagnosis of amyotrophic lateral sclerosis and frontotemporal dementia
Abstract:
Neurodegenerative diseases are perceived as diseases of modern time, though their first descriptions and diagnoses can be traced back to the 19th century. As age is one of the main risk factors for these diseases, the constant increase of the life expectancy in the world's population, results in the increasing proportion of patients with neurodegenerative diseases, including the proportion of patients with ALS and FTD. These two are complex neuronal degradation diseases that occur on average between the ages of 50 and 70. Several studies suggest that these two conditions are just extremes of the phenotypic spectrum of one disease. C9orf72, TARDBP, and FUS are the genes most commonly associated with ALS and FTD. Their mutations disrupt the homeostasis of neurons at various levels, primarily by losing the function of RNA regulating.One of the common pathological signs of these two diseases is the formation and accumulation of toxic protein aggregates in neurons that cause their collapse. The consequences are irreversible, thus early diagnosis is key to alleviating or even preventing the onset of ALS and FTD. The development of molecular diagnostics allows for more accurate diagnoses and detection of ALS and FTD at earlier stages.

Keywords:ALS, FTD, TDP-43, C9orf72, FUS, iPSC, molecular diagnostic

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