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Title: Activity of selected humanin peptides in patients with diagnosed Parkinson’s disease

Abstract:

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.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

neurologia ; genetyka ; biochemia

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Aldona Dembińska-Kieć

Date issued:

2011

Format:

application/pdf

Identifier:

oai:dl.cm-uj.krakow.pl:3471

Call number:

ZB-116996

ControlNumberVIRTUA:

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Language:

pol

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Object collections:

Last modified:

Oct 22, 2019

In our library since:

Mar 8, 2013

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1

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1

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/3471

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ZB-116996 Oct 22, 2019
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