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Effects of the mutation in MCM3AP gene on neuromuscular junction formation

Show simple item record 2021-05-31T13:29:51Z 2021-05-31T13:29:51Z 2021-05-31
dc.title Effects of the mutation in MCM3AP gene on neuromuscular junction formation en
ethesis.faculty Lääketieteellinen tiedekunta fi
ethesis.faculty Faculty of Medicine en
ethesis.faculty Medicinska fakulteten sv
ethesis.faculty.URI Helsingin yliopisto fi University of Helsinki en Helsingfors universitet sv
dct.creator Sinkko, Matilda
dct.issued 2021
dct.language.ISO639-2 eng
dct.abstract In this master’s thesis, in vitro neuromuscular junction (NMJ) model was set up using microfluidic devices. Additionally, the effect of R878H/R878H mutation in MCM3AP gene that causes an early-onset peripheral neuropathy on NMJ formation and maintenance was studied. To study human NMJs that significantly differ from other mammal NMJs is challenging and new models to study the function of these complex and highly specialized structures are needed. Induced pluripotent stem cells (iPSC) and motor neurons were characterized with gene expression studies using qRT-PCR and with immunocytochemistry studies using commonly known markers for pluripotency and motor neurons. NMJs were studied in 2D co-cultures and with microfluidic devices. Gene expression studies were conducted from 2D co-cultures and co-cultures in microfluidic devices provided detailed information of the localization and morphology of NMJs. Expression of essential genes for NMJ formation together with immunocytochemistry results with alpha-bungarotoxin (BTX) staining showed that NMJs were formed in both control and R878H/R878H mutant cell line co-cultures. There was a trend of lower gene expression levels of NMJ essential genes in the R878H/R878H mutant line compared to the control line and also immunocytochemistry results indicated impairment in NMJ formation in the mutant line, but further studies are needed to validate the effect of R878H/R878H mutation on the NMJ formation. In future, functional studies could be conducted to investigate whether these NMJs are functional and the information from the motor neuron terminal is conveyed to the muscle membrane. en
dct.subject neuromuscular junction
dct.subject peripheral neuropathy
dct.subject motor neuron
dct.subject induced pluripotent stem cell
dct.subject co-culture
dct.subject myoblast
dct.subject microfluidic device
dct.language en
ethesis.language englanti fi
ethesis.language English en
ethesis.language engelska sv
ethesis.supervisor Tyynismaa, Henna
ethesis.thesistype pro gradu -tutkielmat fi
ethesis.thesistype master's thesis en
ethesis.thesistype pro gradu-avhandlingar sv
dct.identifier.ethesis E-thesisID:90dc2697-1e5b-4ea2-9326-fe270c45ff60
ethesis-internal.timestamp.reviewStep 2021-04-07 12:22:25:087
dct.identifier.urn URN:NBN:fi:hulib-202105312370
dc.type.dcmitype Text
dct.alternative Effects of the mutation in MCM3AP gene on neuromuscular junction formation en Medical Genetics und Neuroscience und
ethesis.facultystudyline Cross-disciplinary translational medicine fi
ethesis.facultystudyline Cross-disciplinary translational medicine en
ethesis.facultystudyline Cross-disciplinary translational medicine sv
ethesis.mastersdegreeprogram Translationaalisen lääketieteen maisteriohjelma (Translational Medicine) fi
ethesis.mastersdegreeprogram Master's Programme in Translational Medicine en
ethesis.mastersdegreeprogram Magisterprogrammet i translationell medicin sv

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