Nové možnosti laboratórnej diagnostiky ochorení spojených s tvorbou amyloidov. (Slovak)

Many neurodegenerative diseases are defi ned by the aggregation and accumulation of the specific pathological protein in the CNS, leading to irreversible and fatal changes of the tissues. However, due to high clinical and epidemiological heterogeneity, a definitive ante-mortem diagnosis is very difficult to perform. The definitive dia gnosis is confirmed by neuropathological evaluation made only at autopsy. Hope for early and accurate laboratory diagnostics of these diseases within a patient’s life represents methods based on the detection of seeding activity of pathological proteins. An example is a highly specific and ultrasensitive new method called Real-Time Quaking- Induced Conversion (RT-QuIC) assay. Originally, RT-QuIC was developed for the diagnosis of prions showing 92–97% sensitivity and 100% specificity. In our laboratory, we were able to detect prions in 39 brain samples, corresponding 24 cerebrospinal fluid samples, and in 38 skin samples of patients with Creutzfeldt-Jakob disease using RT-QuIC. Lately, the use of the RT-QuIC method for detection of pathological protein -synuclein, which accumulates during Parkinson’s disease or dementia with Lewy bodies, and tau protein which is characteristic for Alzheimer’s disease or corticobasal degeneration, was described. This review aims to elucidate the diagnosis of neurodegenerative diseases and its recent approaches using RT-QuIC. [ABSTRACT FROM AUTHOR]

Rada neurodegeneratívnych ochorení je defi novaná agregáciou a akumuláciou špecifi ckého patologického proteínu v CNS, čo vedie k nezvratným a fatálnym zmenám tkaniva. Avšak kvôli vysokej klinickej a epidemiologickej heterogenite je defi nitívna ante-mortem dia gnostika týchto ochorení obtiažna. Defi nitívne potvrdenie dia gnózy poskytuje až neuropatologické vyšetrenie mozgového tkaniva. Nádej pre skorú a presnú laboratórnu dia gnostiku týchto ochorení za života pacienta predstavujú metódy založené na detekcii konformáciu konvertujúcej aktivity patologických proteínov. Príkladom je nová, vysoko špecifi cká a senzitívna dia gnostická metóda Real-Time Quaking-Induced Conversion (RT-QuIC). Pôvodne bola vyvinutá na dia gnostiku priónových ochorení vykazujúc 92–97 % senzitivitu a 100 % špecifi citu. V našom laboratóriu sme pomocou RT-QuIC detegovali prióny v 39 vzorkách mozgu, 24 korešpondujúcich vzorkách moku a v 38 vzorkách kože pacientov s Creutzfeldt-Jakobovou chorobou. Najnovšie bolo opísané využitie RT-QuIC metódy na detegovanie patologických proteínov -synukleínu, ktorý sa hromadí pri Parkinsonovej chorobe alebo pri demencii s Lewyho telieskami a tau proteínu, charakteristického pre Alzheimerovu chorobu a kortikobazálnu degeneráciu. Predložený text sa zameriava na oboznámenie problematiky dia gnostiky neurodegeneratívnych ochorení pomocou RT-QuIC metódy. [ABSTRACT FROM AUTHOR]

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