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The molecular mechanisms underlying SLD remain unclear, though genetic and epigenetic factors are thought to play a significant role. MeCP2 is an epigenetic regulator that binds to methylated DNA, playing a crucial role in the regulation of gene expression and SP in neuronal cells. PTEN, a tumor suppressor gene, regulates cell growth, survival, and apoptosis, and is critical for maintaining synaptic integrity. In this study, we aimed to examine the expression of MeCP2 and PTEN in individuals with SLD. RNA was isolated from blood samples, and gene expression was assessed using quantitative PCR (qPCR). A total of 38 participants with SLD and 35 healthy controls were included in the study. Our results revealed a 15.44-fold upregulation of MeCP2 and a 13.66-fold downregulation of PTEN in the SLD group compared to controls, suggesting a disrupted balance of gene expression. There was no significant difference in gene expression between severe and non-severe SLD groups. These findings suggest that the dysregulation of MeCP2 and PTEN may be involved in the pathophysiology of SLD, influencing SP and neuronal function. In conclusion, the altered expression of these genes in individuals with SLD highlights potential biomarkers for early diagnosis and therapeutic targets, opening avenues for future research and intervention strategies.<\/jats:p>","DOI":"10.1007\/s12031-025-02370-3","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T10:35:38Z","timestamp":1749206138000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Altered Expression of MeCP2 and PTEN Genes in the Molecular Basis of Specific Learning Disorder"],"prefix":"10.1007","volume":"75","author":[{"given":"Fatma","family":"Atasever","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2889-3600","authenticated-orcid":false,"given":"Nil \u00d6zbil\u00fcm","family":"\u015eahin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9437-3024","authenticated-orcid":false,"given":"Cansu Mercan","family":"I\u015f\u0131k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,6]]},"reference":[{"key":"2370_CR1","doi-asserted-by":"publisher","first-page":"E1936","DOI":"10.1073\/pnas.1421480112","volume":"112","author":"A Amador-Arjona","year":"2015","unstructured":"Amador-Arjona A, Cimadamore F, Huang C-T et al (2015) SOX2 primes the epigenetic landscape in neural precursors enabling proper gene activation during hippocampal neurogenesis. 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This study was performed in line with the principles of the Declaration of Helsinki. Approval was granted by the Ethics Committee of Sivas Cumhuriyet University Clinical Ethic committee Decision No: 2024\u201307\/46, decision date: 18.07.2024.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participant"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}],"article-number":"74"}}