| Authors |
Grigor'eva E.V., Valetdinova K.R., Ustyantseva E.I., Shevchenko A.I., Medvedev S.P., Mazurok N.A., Maretina M.A., Kuranova M.L., Kiselev A.V., Baranov V.S., Zakian S.M. |
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| Abstract |
Induced pluripotent stem cells (iPSCs) give the possibility for disease
modeling, drug and toxicology screening and development of the new
therapeutic approaches. Directed differentiation of iPSCs into specialized
cell types represents a unique tool in order to study and model certain
diseases, which affects specific type of cells, in vitro. one of the
typical example of such diseases is spinal muscular atrophy, which is
caused by mutations in the SMN1 gene (survival motor neuron 1 gene),
leading to selective death of motor neurons. Patient-specific iPSCs were
derived from the patient with a hereditary form of spinal muscular atrophy
I type and expressed the markers of pluripotency (NANOG, TRA-1-60, SSEA4,
OCT4, KLF4, MYC, REX1, and others). Spontaneous differentiation of the
obtained cells resulted in the appearance of derivatives of the three germ
layers: ecto-, meso-and endoderm. neural differentiation showed the
appearance of the early neural markers (PAX6, SOX2, NESTIN, tuJ1, PSA-
NCAM), the late mature neural markers (MAP2, NF200, GFAP), and the mature
motor neurons' markers (ISL1 and CHAT). neurons derived from patient-
specific iPSCs are perspective model for studying the features of the
cells, which are altered in spinal muscular atrophy.
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