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Tytuł: Activity of selected humanin peptides in patients with diagnosed Parkinson’s disease
Abstrakt:
Humanin (HN) was originally found to inhibit neuronal death induced by exogenousAß and expression of familial AD mutant genes. It was demonstrated that HN and itsanalogues (HN with amino acid modifications of the peptide chain) have a broadspectrum of neuroprotective, antiapoptotic, cytoprotective and also antiinflammatoryactivities thus can be considered as a therapeutic target not only forAlzheimer`s disease but also for other neurodegenerative disorders like Parkinsondisease.The aim of the study was to investigate the genetic heterogenity ofMTRNR2 and MTRNR2L5 genes in patients with Parkinson`s disease. We performedthe genotyping (using 3130xl Genetic Analyzer, Applied Biosystems) of 214patients with diagnosed Parkinson`s disease and 193 healthy controls. We identifiedc.38C>T polymorphism in MTRNR2L5 gene which not influenced on Parkinson`sdisease development but was associated with Parkinson`s disease progression. Weobserved higher frequency of C/T and C/C genotypes in comparison to T/T inpatient with severe symptoms of disease like: dementia (MMSE), high level ofdisability (H&Y), affected activities of daily living (UPDRS II) as well as walkingdisturbances (UPDRS III). Moreover we identified the missense mutation c.7C>T(p.Pro3Ser) in MTRNR2 gene in two Parkinson`s disease patients. In the two carriersof c.7C>T mutation we observed low Parkinson`s disease progression. They ; don`thave any cognitive, walking as well as high motor disabilities.Basing on our results we could speculated that gene heterogeneity caninfluence specific HN and its analog activities. The research progress regarding theexact pathological mechanism in which HNs are involved needs further studies.
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neurologia ; genetyka ; biochemia
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Data ostatniej modyfikacji:
17 mar 2023
Data dodania obiektu:
8 mar 2013
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http://dl.cm-uj.krakow.pl:8080/publication/3471
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| Nazwa wydania | Data |
|---|---|
| ZB-116996 | 17 mar 2023 |
Obiekty
Podobne
Zapała, Barbara
Malec-Litwinowicz, Michalina
Kurnik-Łucka, Magdalena
Pietraszko, Wojciech
Dec-Ćwiek, Małgorzata
Sułkowski, Maciej
