@article{0140c6f359ea43d186e8cad280a5cfac,
title = "Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC",
abstract = "Spinal muscular atrophy is a progressive motor neuron disorder caused by deletions or point mutations in the SMN1 gene. It is not known why motor neurons are particularly sensitive to a decrease in SMN protein levels and what factors besides SMN2 underlie the high clinical heterogeneity of the disease. Here we studied the methylation patterns of genes on sequential stages of motor neuron differentiation from induced pluripotent stem cells derived from the patients with SMA type I and II. The genes involved in the regulation of pluripotency, neural differentiation as well as those associated with spinal muscular atrophy development were included. The results show that the PAX6, HB9, CHAT, ARHGAP22, and SMN2 genes are differently methylated in cells derived from SMA patients compared to the cells of healthy individuals. This study clarifies the specificities of the disease pathogenesis and extends the knowledge of pathways involved in the SMA progression.",
keywords = "DNA methylation, Genetic modifier, iPSC, Neuronal differentiation, SMN, Spinal muscular atrophy, Humans, Cells, Cultured, Neurogenesis, Induced Pluripotent Stem Cells/physiology, DNA Methylation, Muscular Atrophy, Spinal/genetics, Survival of Motor Neuron 2 Protein/genetics, Gene Expression Regulation, Developmental, GTPase-Activating Proteins/genetics, Motor Neurons/physiology, PAX6 Transcription Factor/genetics, Survival of Motor Neuron 1 Protein/genetics, Cell Differentiation",
author = "Maretina, {M. A.} and Valetdinova, {K. R.} and Tsyganova, {N. A.} and Egorova, {A. A.} and Ovechkina, {V. S.} and Schi{\"o}th, {H. B.} and Zakian, {S. M.} and Baranov, {V. S.} and Kiselev, {A. V.}",
note = "Funding Information: This work was supported by Russian Foundation for Basic Research grant 18-315-00258 and by Ministry of Science and Higher Education of the Russian Federation , project number AAAA-A19-119021290033-1 . We also acknowledge partial financial support of DNA bisulfite conversion reagents by Saint-Petersburg City Administration grant for young scientists. Marianna A. Maretina is supported by the President of Russian Federation scholarship ( SP-822.2018.4 ). Helgi B. Schi{\"o}th is supported by the Swedish Research Council . Publisher Copyright: {\textcopyright} 2021 Elsevier B.V.",
year = "2022",
month = feb,
day = "15",
doi = "10.1016/j.gene.2021.146109",
language = "English",
volume = "811",
journal = "Gene",
issn = "0378-1119",
publisher = "Elsevier",
}