Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders
IntroductionNeurodevelopmental disorders (NDs) are a range of heterogeneous clinical conditions associated with dysfunctional brain development. Variations in DNA methylation (DNAm) have been reported in patients with NDs. Piezo1, which is encoded by the PIEZO1 gene, is a mechanosensitive ion channe...
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Frontiers Media S.A.
2025-07-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fpsyg.2025.1593609/full |
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| author | Eleonora Mascheroni Fabiana Mambretti Laura Cordolcini Annalisa Castagna Elisa Rosa Niccolò Butti Andrea Citterio Nivedita Agarwal Rosario Montirosso |
| author_facet | Eleonora Mascheroni Fabiana Mambretti Laura Cordolcini Annalisa Castagna Elisa Rosa Niccolò Butti Andrea Citterio Nivedita Agarwal Rosario Montirosso |
| author_sort | Eleonora Mascheroni |
| collection | DOAJ |
| description | IntroductionNeurodevelopmental disorders (NDs) are a range of heterogeneous clinical conditions associated with dysfunctional brain development. Variations in DNA methylation (DNAm) have been reported in patients with NDs. Piezo1, which is encoded by the PIEZO1 gene, is a mechanosensitive ion channel protein involved in mechanotransduction across many physiological systems. Its regulation is involved in several diseases of the Central Nervous System (CNS) during adulthood and aging. Although PIEZO1 gene expression is susceptible to epigenetic regulation associated with pathological phenotypes during development, no previous study has explored PIEZO1 DNAm in infants with NDs.MethodsPIEZO1 methylation in 15 CpG sites was assessed in 24 infants with NDs and in 22 infants with typical development (TD) aged between 3 and 36 months.ResultsA principal component analysis (PCA) was run and yielded two factors: principal component1 (PC1) comprising 7 CpG sites and principal component2 (PC2) comprising 8 CpG sites. In PC2, DNAm levels were lower in infants with NDs compared to TD, suggesting hypomethylation in the clinical group, which, in turn, might impact the degree of Piezo1 protein expression.ConclusionWe speculate that PIEZO1 hypomethylation as a potential epigenetic mark could contribute to the poorer mechanical properties of brain tissue in infants with NDs by altering the Piezo1 expression patterns. These findings suggest that the PIEZO1 DNAm status could serve as an early epigenetic marker of NDs, offering promising implications for identifying underlying mechanisms involved in their onset. |
| format | Article |
| id | doaj-art-19a1eb9ee64c4d789892e2a690c6c7c3 |
| institution | DOAJ |
| issn | 1664-1078 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Psychology |
| spelling | doaj-art-19a1eb9ee64c4d789892e2a690c6c7c32025-08-20T03:16:11ZengFrontiers Media S.A.Frontiers in Psychology1664-10782025-07-011610.3389/fpsyg.2025.15936091593609Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disordersEleonora Mascheroni0Fabiana Mambretti1Laura Cordolcini2Annalisa Castagna3Elisa Rosa4Niccolò Butti5Andrea Citterio6Nivedita Agarwal7Rosario Montirosso8Scientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, Molecular Biology Lab, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, Molecular Biology Lab, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, Diagnostic Imaging and Neuroradiology Unit, Bosisio Parini, ItalyScientific Institute, IRCCS E. Medea, 0-3 Center for the at-Risk Infant, Bosisio Parini, ItalyIntroductionNeurodevelopmental disorders (NDs) are a range of heterogeneous clinical conditions associated with dysfunctional brain development. Variations in DNA methylation (DNAm) have been reported in patients with NDs. Piezo1, which is encoded by the PIEZO1 gene, is a mechanosensitive ion channel protein involved in mechanotransduction across many physiological systems. Its regulation is involved in several diseases of the Central Nervous System (CNS) during adulthood and aging. Although PIEZO1 gene expression is susceptible to epigenetic regulation associated with pathological phenotypes during development, no previous study has explored PIEZO1 DNAm in infants with NDs.MethodsPIEZO1 methylation in 15 CpG sites was assessed in 24 infants with NDs and in 22 infants with typical development (TD) aged between 3 and 36 months.ResultsA principal component analysis (PCA) was run and yielded two factors: principal component1 (PC1) comprising 7 CpG sites and principal component2 (PC2) comprising 8 CpG sites. In PC2, DNAm levels were lower in infants with NDs compared to TD, suggesting hypomethylation in the clinical group, which, in turn, might impact the degree of Piezo1 protein expression.ConclusionWe speculate that PIEZO1 hypomethylation as a potential epigenetic mark could contribute to the poorer mechanical properties of brain tissue in infants with NDs by altering the Piezo1 expression patterns. These findings suggest that the PIEZO1 DNAm status could serve as an early epigenetic marker of NDs, offering promising implications for identifying underlying mechanisms involved in their onset.https://www.frontiersin.org/articles/10.3389/fpsyg.2025.1593609/fullneurodevelopmental disordersepigeneticsDNA methylationPiezo1PIEZO1 |
| spellingShingle | Eleonora Mascheroni Fabiana Mambretti Laura Cordolcini Annalisa Castagna Elisa Rosa Niccolò Butti Andrea Citterio Nivedita Agarwal Rosario Montirosso Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders Frontiers in Psychology neurodevelopmental disorders epigenetics DNA methylation Piezo1 PIEZO1 |
| title | Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders |
| title_full | Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders |
| title_fullStr | Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders |
| title_full_unstemmed | Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders |
| title_short | Exploring PIEZO1 DNA methylation in infants with neurodevelopmental disorders |
| title_sort | exploring piezo1 dna methylation in infants with neurodevelopmental disorders |
| topic | neurodevelopmental disorders epigenetics DNA methylation Piezo1 PIEZO1 |
| url | https://www.frontiersin.org/articles/10.3389/fpsyg.2025.1593609/full |
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