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Differentiation of cranial neural crest cells from human embryonic stem cells

Show simple item record 2022-05-04T10:23:50Z 2022-05-04T10:23:50Z 2022-05-04
dc.title Differentiation of cranial neural crest cells from human embryonic stem cells en
ethesis.faculty Bio- ja ympäristötieteellinen tiedekunta fi
ethesis.faculty Faculty of Biological and Environmental Sciences en
ethesis.faculty Bio- och miljövetenskapliga fakulteten sv
ethesis.faculty.URI Helsingin yliopisto fi University of Helsinki en Helsingfors universitet sv
dct.creator Gómez Sánchez, Celia
dct.issued 2022
dct.abstract Kv7.1 is a potassium ion channel comprised of the KCNQ1 protein, which can coassemble with distinct β-subunits modulating the channel functions in different tissues. In 2017, Raivio’s group (from the University of Helsinki) found two missense mutations in the KCNQ1 gene, p.(Arg116Leu) and p.(Pro369Leu), responsible for causing pituitary hormone deficiency and maternally inherited gingival fibromatosis. The facial features and bone structure pointed to a cranial neural crest (CNC)-derived phenotype caused by an alteration in the potassium channel balance, given that these cells form the bone and cartilage of the cranial zone. To understand the implication of the CNC in the KCNQ1 syndrome, I attempted to replicate the CNC differentiation protocol of Suga and Furue (2019) with the aim of obtaining cranial neural crest cells (CNCCs). This would enable future generation of a KCNQ1-related disease model. The differentiation process was carried out thrice, and two BMP4 concentrations (10 and 100 ng/ml) were assayed. The differentiated cells exhibited a CNC-like morphology as well as upregulation of the marker genes (TFAP2A, SOX10, DLX1, MSX1, and DLX2) associated to this cell lineage. However, the gene expression was low according to the qRT-PCR Ct values, which were in most cases higher than 30. Additionally, no differences were found between the two BMP4 treatments. Furthermore, the cells did not express KCNQ1, and thus the impact of the two KCNQ1 mutations was not investigated under this protocol. In conclusion, the protocol had a low efficiency in the generation of CNCCs that was not improved by increasing the BMP4 concentration. Further optimization of the protocol, such as the BMP4 concentration or the cell density of the culture, will be needed to improve its efficiency and obtain an adequate disease model. en
dct.subject cranial neural crest
dct.subject KCNQ1
dct.subject BMP4
dct.subject differentiation
ethesis.language englanti fi
ethesis.language English en
ethesis.language engelska sv
ethesis.supervisor Taneli Raivio, Yafei Wang und
ethesis.thesistype pro gradu -tutkielmat fi
ethesis.thesistype master's thesis en
ethesis.thesistype pro gradu-avhandlingar sv
dct.identifier.ethesis E-thesisID:29e173dc-1fd0-44f2-92ac-39ccf5d73124
ethesis-internal.timestamp.reviewStep 2022-03-04 13:15:45:556
ethesis.principalprofessor Ville Ilmari Hietakangas und
dct.identifier.urn URN:NBN:fi:hulib-202205041799
ethesis.facultystudyline Genetiikka ja genomiikka fi
ethesis.facultystudyline Genetics and genomics en
ethesis.facultystudyline Genetiikka ja genomiikka sv
ethesis.mastersdegreeprogram Genetiikan ja molekulaaristen biotieteiden maisteriohjelma fi
ethesis.mastersdegreeprogram Master's Programme in Genetics and Molecular Biosciences en
ethesis.mastersdegreeprogram Magisterprogrammet i genetik och molekylära biovetenskaper sv

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