Percorrer por autor "Cohen-Akenine, Emmy"
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- Genetics and epigenetics of temporomandibular disorders: critical review of the literaturePublication . Cohen-Akenine, Emmy; Barbosa, CláudiaTemporomandibular disorders (TMDs) are a category of musculoskeletal conditions affecting the masticatory muscles, temporomandibular joints (TMJ), and related structures, with a multifactorial and complex etiology. As the second most common cause of orofacial pain, TMD can significantly reduce quality of life, especially when symptoms become chronic and painful. Recent research has increasingly focused on the role of genetic and epigenetic factors in the onset, progression, and variability of TMD. This narrative literature review critically examines key genes and polymorphisms associated with TMD susceptibility, explores their functional impact on pathophysiology and pain mechanisms, and evaluates the clinical relevance and limitations of current genetic studies in diagnosis and treatment. Genes involved in pain processing, inflammation, and psychological modulation, such as COMT, ESR1, TNF-α, and 5-HT2A, influence individual vulnerability to TMD. Epigenetic modifications, especially DNA methylation of genes like ZFP57, RNF39, ZNF718, and PM20D1, may regulate gene expression in response to environmental and psychosocial stressors, contributing to pain persistence and central sensitization. Although these insights offer promising avenues for personalized diagnosis and management of TMD, their integration into clinical practice remains limited by methodological variability and small study cohorts. The review highlights the need for standardized, large-scale research to better understand causal mechanisms and enhance personalized therapeutic approaches.
