Generation of an induced pluripotent stem cell line SYSUi-003-A from a child with epilepsy carrying GRIN2A mutation

Publication date: Available online 15 January 2020Source: Stem Cell ResearchAuthor(s): Chuanbo Sun, Mingzhu Yang, Fengying Qin, Ruirui Guo, Shiqi Liang, Hao HuAbstractwe generated iPSCs from peripheral blood mononuclear cells of a child with epilepsy carrying heterozygous missense mutation in GRIN2A, using integration free episomal vectors. These iPSCs express pluripotent markers, represent a normal karyotype and have the ability to differentiate into three germ layers.
Source: Stem Cell Research - Category: Stem Cells Source Type: research

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AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by epilepsy, intellectual disability, and benign tumors of the brain, heart, skin, and kidney. Animal models have contributed to our understanding of normal and abnormal human brain development, but the construction of models that accurately recapitulate a human pathology remains challenging. Recent advances in stem cell biology with the derivation of human-induced pluripotent stem cells (hiPSCs) from somatic cells from patients have opened new avenues to the study of TSC. This approach combined with gene-editing tools such as CRISPR/C...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Conclusions Our results suggest that giving levetiracetam at 1000  mg q12h p.o starting 12 h before the administration of i.v. busulfan until 48 h after the last dose, can be used as an alternative in the prevention of busulfan-induced seizures in adults.
Source: International Journal of Clinical Pharmacy - Category: Drugs & Pharmacology Source Type: research
We examined whether Rhy promotes this regulation in bone marrow human mesenchymal stromal cells (BM-hMSCs). Results revealed (i) Rhy modulated biological activity by regulating the mitochondria, N-methyl-D-aspartate receptor subunit, and levels of FGFβ (basic fibroblast growth factor), BDNF (brain-derived neurotrophic factor), OXTR (oxytocin receptor) and ATP (Adenosine triphosphate); (ii) Rhy altered expression level of BM-MSC proliferation/differentiation-related transcription genes; and (iii) interestingly, Rhy amplified the glycolytic flow ratio and lactate dehydrogenase activity while reducing pyruvate dehydrogen...
Source: Cytotherapy - Category: Cytology Source Type: research
Authors: Traynelis SF, Dlugos D, Henshall D, Mefford HC, Rogawski MA, Staley KJ, Dacks PA, Whittemore V, Poduri A, National Institutes of Neurological Disorders and Stroke (NINDS)/American Epilepsy Society (AES) Epilepsy Research Benchmark Stewards Abstract The goals of Epilepsy Benchmark Area III involve identifying areas that are ripe for progress in terms of controlling seizures and patient symptoms in light of the most recent advances in both basic and clinical research. These goals were developed with an emphasis on potential new therapeutic strategies that will reduce seizure burden and improve quality of lif...
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Publication date: Available online 21 January 2020Source: Stem Cell ResearchAuthor(s): Bei Zhang, Yishu Wang, Jing Peng, Yong Hao, Yangtai GuanAbstractA 48-year-old female epilepsy patient of Han Chinese genetic descent carrying heterozygous mutations in PIK3R2 donated her peripheral blood mononuclear cells (PBMCs). The PBMCs were reprogrammed by the nonintegrating vector system with human OKSM transcription factors. The generated iPSCs contained congenital mutations in an exon of PIK3R2 and expressed endogenous pluripotency markers. They had a normal karyotype and were able to differentiate into all three germ layers. Thi...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
ConclusionMEK-ERK and MNK-eIF4E pathways regulate protein translation, and our results suggest that aberrant translation distinct in TSC1/2-deficient NPCs could play a role in neurodevelopmental defects. Our data showing upregulation of these signaling pathways by rapamycin support a strategy to combine a MEK or a MNK inhibitor with rapamycin that may be superior for TSC-associated CNS defects. Importantly, our generation of isogenic sets of NPCs from TSC patients provides a valuable platform for translatome and large-scale drug screening studies. Overall, our studies further support the notion that early developmental eve...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Abstract Seizure-induced neurogenesis has a widely recognized pro-epileptogenic function. Given the critical role of Notch signaling during the maintenance and neurogenesis of neural stem cells, we hypothesized that Notch may affect epileptogenesis and its progression through its role in neurogenesis in the adolescent rat brain. We used the lithium-pilocarpine-induced epilepsy model in adolescent Sprague-Dawley rats in order to evaluate hippocampal neurogenesis and epileptogenesis following the onset of status epilepticus (SE). We used western blotting analyses and qPCR to measure levels of Notch signaling at diff...
Source: Cell Research - Category: Cytology Authors: Tags: Cell Tissue Res Source Type: research
AbstractSeizure-induced neurogenesis has a widely recognized pro-epileptogenic function. Given the critical role of Notch signaling during the maintenance and neurogenesis of neural stem cells, we hypothesized that Notch may affect epileptogenesis and its progression through its role in neurogenesis in the adolescent rat brain. We used the lithium-pilocarpine-induced epilepsy model in adolescent Sprague –Dawley rats in order to evaluate hippocampal neurogenesis and epileptogenesis following the onset of status epilepticus (SE). We used western blotting analyses and qPCR to measure levels of Notch signaling at differe...
Source: Cell and Tissue Research - Category: Cytology Source Type: research
Wrapping up this year and looking back on the particularly interesting developments in medical technology, we at Medgadget are impressed and very excited about the future. We’re lucky to cover one of the most innovative fields of research and o...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Source Type: blogs
ConclusionsThis is the first report to show that humanNRXN1 α+/ − neurons derived from ASD patients ’ iPSCs present novel phenotypes of upregulated VGCCs and increased Ca2+ transients, which may facilitate the development of drug screening assays for the treatment of ASD.
Source: Molecular Autism - Category: Molecular Biology Source Type: research
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