MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells
Cell Mol Life Sci. 2023 Feb 27;80(3):75. doi: 10.1007/s00018-023-04719-6.ABSTRACTMethyl-CpG binding protein 2 (MeCP2) is a ubiquitous transcriptional regulator. The study of this protein has been mainly focused on the central nervous system because alterations of its expression are associated with neurological disorders such as Rett syndrome. However, young patients with Rett syndrome also suffer from osteoporosis, suggesting a role of MeCP2 in the differentiation of human bone marrow mesenchymal stromal cells (hBMSCs), the precursors of osteoblasts and adipocytes. Here, we report an in vitro downregulation of MeCP2 in hBM...
Source: Cellular and Molecular Life Sciences : CMLS - February 27, 2023 Category: Cytology Authors: Angelica Giuliani Jacopo Sabbatinelli Stefano Amatori Laura Graciotti Andrea Silvestrini Giulia Matacchione Deborah Ramini Emanuela Mens à Francesco Prattichizzo Lucia Babini Domenico Mattiucci Elena Marinelli Busilacchi Maria Giulia Bacalini Emma Espino Source Type: research
MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells
Cell Mol Life Sci. 2023 Feb 27;80(3):75. doi: 10.1007/s00018-023-04719-6.ABSTRACTMethyl-CpG binding protein 2 (MeCP2) is a ubiquitous transcriptional regulator. The study of this protein has been mainly focused on the central nervous system because alterations of its expression are associated with neurological disorders such as Rett syndrome. However, young patients with Rett syndrome also suffer from osteoporosis, suggesting a role of MeCP2 in the differentiation of human bone marrow mesenchymal stromal cells (hBMSCs), the precursors of osteoblasts and adipocytes. Here, we report an in vitro downregulation of MeCP2 in hBM...
Source: Cellular and Molecular Life Sciences : CMLS - February 27, 2023 Category: Cytology Authors: Angelica Giuliani Jacopo Sabbatinelli Stefano Amatori Laura Graciotti Andrea Silvestrini Giulia Matacchione Deborah Ramini Emanuela Mens à Francesco Prattichizzo Lucia Babini Domenico Mattiucci Elena Marinelli Busilacchi Maria Giulia Bacalini Emma Espino Source Type: research
Epigenome editing of MECP2 rescues Rett syndrome neurons
Nature Reviews Neurology, Published online: 01 February 2023; doi:10.1038/s41582-023-00778-2In a new study, targeted editing of the epigenome was found to reactivate silenced MECP2 in human embryonic stem cells, suggesting that a similar approach could be used to treat Rett syndrome in girls. (Source: Nature Reviews Neurology)
Source: Nature Reviews Neurology - February 1, 2023 Category: Neurology Authors: Sarah Lempri ère Source Type: research
GSE191168 Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models
Contributors : Deivid C Rodrigues ; Marat Mufteev ; Olivia S Rissland ; Michael D Wilson ; James EllisSeries Type : Expression profiling by high throughput sequencing ; Non-coding RNA profiling by high throughput sequencingOrganism : Homo sapiensModels of MECP2 dysfunction in Rett syndrome (RTT) assume that transcription rate changes directly correlate with altered steady-state mRNA levels. However, limited evidence suggests that transcription rate changes are buffered by poorly understood compensatory post-transcriptional mechanisms. Here we measure transcription rate and mRNA half-life changes in RTT patient neurons us...
Source: GEO: Gene Expression Omnibus - January 27, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Non-coding RNA profiling by high throughput sequencing Homo sapiens Source Type: research
Unexpected thermodynamic signature for the interaction of hydroxymethylated DNA with MeCP2
Int J Biol Macromol. 2023 Jan 23:123373. doi: 10.1016/j.ijbiomac.2023.123373. Online ahead of print.ABSTRACTHydroxymethylated cytosine (5hmC) is a stable DNA epigenetic mark recognized by methyl-CpG binding protein 2 (MeCP2), which acts as a transcriptional regulator and a global chromatin-remodeling element. Because 5hmC triggers a gene regulation response markedly different from that produced by methylated cytosine (5mC), both modifications must affect DNA structure and/or DNA interaction with MeCP2 differently. MeCP2 is a six-domain intrinsically disordered protein (IDP) with two domains responsible for dsDNA binding: m...
Source: International Journal of Biological Macromolecules - January 26, 2023 Category: Biochemistry Authors: David Ortega-Alarcon Rafael Claveria-Gimeno Sonia Vega Olga C Jorge-Torres Manel Esteller Olga Abian Adrian Velazquez-Campoy Source Type: research
Unexpected thermodynamic signature for the interaction of hydroxymethylated DNA with MeCP2
Int J Biol Macromol. 2023 Jan 23:123373. doi: 10.1016/j.ijbiomac.2023.123373. Online ahead of print.ABSTRACTHydroxymethylated cytosine (5hmC) is a stable DNA epigenetic mark recognized by methyl-CpG binding protein 2 (MeCP2), which acts as a transcriptional regulator and a global chromatin-remodeling element. Because 5hmC triggers a gene regulation response markedly different from that produced by methylated cytosine (5mC), both modifications must affect DNA structure and/or DNA interaction with MeCP2 differently. MeCP2 is a six-domain intrinsically disordered protein (IDP) with two domains responsible for dsDNA binding: m...
Source: International Journal of Biological Macromolecules - January 26, 2023 Category: Biochemistry Authors: David Ortega-Alarcon Rafael Claveria-Gimeno Sonia Vega Olga C Jorge-Torres Manel Esteller Olga Abian Adrian Velazquez-Campoy Source Type: research
Global prevalence of Rett syndrome: systematic review and meta-analysis
ConclusionThese findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times. (Source: Systematic Reviews)
Source: Systematic Reviews - January 16, 2023 Category: International Medicine & Public Health Source Type: research
GSE189983 Transcriptome Analysis of the cadiomyoocytes derived from Rett syndrome patent-specific Isogenic induced Pluripotent Stem Cell
Contributors : N G Kwong-Man ; T S Yiu-LamSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensRett syndrome (RTT) is a severe neurodevelopmental disorder caused by MeCP2 mutation. However, the pathophysiological roles of MeCP2 mutation in the aetiology of QT prolongation and sudden death remain unclear. Here, we performed RNA sequencing-based transcriptome analysis in a pair of isogenic RTT female patient-specific induced pluripotent stem cell derived-cardiomyocytes (iPSC-CMs) that expresses either MeCP2wildtype or MeCP2mutant allele, and iPSC-CMs from a non-disease female control. The re...
Source: GEO: Gene Expression Omnibus - January 11, 2023 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
IJERPH, Vol. 20, Pages 659: Individualized Remotely Supervised Motor Activity Programs Promote Rehabilitation Goal Achievement, Motor Functioning, and Physical Activity of People with Rett Syndrome & mdash;A Single-Cohort Study
Conclusions: The proposed intervention was effective for people with RTT of various ages and severity levels. The results highlight the need for lifelong, individualized, daily based, and professionally supervised rehabilitation possibilities for individuals with RTT. (Source: International Journal of Environmental Research and Public Health)
Source: International Journal of Environmental Research and Public Health - December 30, 2022 Category: Environmental Health Authors: Alberto Romano Elena Ippolito Martina Favetta Meir Lotan Daniel Sender Moran Tags: Article Source Type: research
GSE221361 A single-cell atlas reveals heterogeneity of meningeal immunity in a mouse model of Methyl CpG binding protein 2 deficiency
Contributors : Huiping Li ; Weijun Feng ; Xiu Xu ; Meixin HuSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusMethyl CpG binding protein 2 (MeCP2) is a DNA methylation reader protein, and mutations in MeCP2 are the major cause of Rett syndrome (RTT). Increasing evidence has shown that dysregulated immunity and chronic subclinical inflammation are linked to MeCP2 deficiency and contribute to RTT development and deterioration. The meninges surrounding the central nervous system (CNS) contain a wide repertoire of immune cells that participate in immune surveillance of the CNS and influ...
Source: GEO: Gene Expression Omnibus - December 29, 2022 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Mus musculus Source Type: research
KW-2449 and VPA exert therapeutic effects on human neurons and cerebral organoids derived from MECP2-null hESCs
CONCLUSIONS: These findings suggest that KW-2449 and VPA might be promising drugs for RTT treatment.PMID:36575558 | DOI:10.1186/s13287-022-03216-0 (Source: Cell Research)
Source: Cell Research - December 27, 2022 Category: Cytology Authors: Ya-Jie Xu Pei-Pei Liu Zhong-Ze Yan Ting-Wei Mi Ying-Ying Wang Qian Li Zhao-Qian Teng Chang-Mei Liu Source Type: research
Molecules, Vol. 27, Pages 8772: Neuroprotective Properties of Cardoon Leaves Extracts against Neurodevelopmental Deficits in an In Vitro Model of Rett Syndrome Depend on the Extraction Method and Harvest Time
In conclusion, cardoon leaves extracts with high content of hydrophobic bioactive molecules and low cynaropicrin and lupeol concentrations have pharmacological potential to stimulate neuronal development in RTT and WT neurons in vitro. (Source: Molecules)
Source: Molecules - December 10, 2022 Category: Chemistry Authors: Mariachiara Spennato Ottavia Maria Roggero Simona Varriale Fioretta Asaro Angelo Cortesi Jan Ka špar Enrico Tongiorgi Cinzia Pezzella Lucia Gardossi Tags: Article Source Type: research
Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
Eur J Paediatr Neurol. 2022 Dec 5;42:15-21. doi: 10.1016/j.ejpn.2022.11.010. Online ahead of print.NO ABSTRACTPMID:36493671 | DOI:10.1016/j.ejpn.2022.11.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 9, 2022 Category: Neurology Authors: Takeshi Suzuki Yuji Ito Tadashi Ito Hiroyuki Kidokoro Koji Noritake Keita Tsujimura Shinji Saitoh Hiroyuki Yamamoto Nobuhiko Ochi Naoko Ishihara Izumi Yasui Hideshi Sugiura Tomohiko Nakata Jun Natsume Source Type: research
Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
Eur J Paediatr Neurol. 2022 Dec 5;42:15-21. doi: 10.1016/j.ejpn.2022.11.010. Online ahead of print.NO ABSTRACTPMID:36493671 | DOI:10.1016/j.ejpn.2022.11.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 9, 2022 Category: Neurology Authors: Takeshi Suzuki Yuji Ito Tadashi Ito Hiroyuki Kidokoro Koji Noritake Keita Tsujimura Shinji Saitoh Hiroyuki Yamamoto Nobuhiko Ochi Naoko Ishihara Izumi Yasui Hideshi Sugiura Tomohiko Nakata Jun Natsume Source Type: research
Pathological gait in Rett syndrome: Quantitative evaluation using three-dimensional gait analysis
Eur J Paediatr Neurol. 2022 Dec 5;42:15-21. doi: 10.1016/j.ejpn.2022.11.010. Online ahead of print.NO ABSTRACTPMID:36493671 | DOI:10.1016/j.ejpn.2022.11.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - December 9, 2022 Category: Neurology Authors: Takeshi Suzuki Yuji Ito Tadashi Ito Hiroyuki Kidokoro Koji Noritake Keita Tsujimura Shinji Saitoh Hiroyuki Yamamoto Nobuhiko Ochi Naoko Ishihara Izumi Yasui Hideshi Sugiura Tomohiko Nakata Jun Natsume Source Type: research
