Presentation Category
Research
Introduction/Context/Diagnosis
Objectives: Orofacial clefts (OFC) constitute a significant portion of global birth defects, encompassing various manifestations such as cleft lip only, isolated cleft palate, or cleft lip and palate. The multifactorial etiology of non-syndromic OFC underscores the importance of understanding the interplay between molecular genetics and environmental factors. We conducted a review of the literature to investigate folate metabolism in the context of OFC, with a particular focus on Methylenetetrahydrofolate reductase (MTHFR) and Reduced folate carrier-1 (RFC-1). The review aims to explore the role of folate metabolism, specifically examining the involvement of MTHFR and RFC-1, to elucidate mechanisms and identify potential prevention strategies for OFC. Methods: A comprehensive literature search was conducted across databases PubMed and Google Scholar with restriction to articles published in English from 1990 to 2024. Keywords folate metabolism, orofacial clefts, MTHFR, RFC-1, were used to retrieve studies investigating the relationship between folate metabolism, MTHFR, RFC-1, and OFC. Results: The search produced 184 articles. After excluding duplicities and applying other restrictions 17 articles were selected that highlighted the complex interplay between genetic and environmental factors in OFC etiology. Mutations in RFC-1 and MTHFR have been implicated in increasing OFC risk due to their roles in folate absorption and processing. However, data providing support for a direct role of polymorphisms in genes involved in folate metabolism in OFC pathogenesis are limited. Conclusion: Folate plays a critical role in DNA synthesis, methylation processes, and cell division, with deficiency linked to elevated homocysteine levels associated with OFC. Further research is needed to elucidate precise mechanisms underlying the association between genetic polymorphisms related to folate metabolism and OFC. This understanding could pave the way for personalized prevention approaches. Acknowledgements: Gratitude is extended to Dr. Tolarova and Dr. Tolar for their continued support and mentorship.
Location
Arthur A Dugoni School of Dentistry, 155 5th St, San Francisco, CA 94103, USA
Format
Presentation
Folate Pharmacology and Metabolism with Focus on MTHFR and RFC-1 in Orofacial Clefts
Arthur A Dugoni School of Dentistry, 155 5th St, San Francisco, CA 94103, USA
Objectives: Orofacial clefts (OFC) constitute a significant portion of global birth defects, encompassing various manifestations such as cleft lip only, isolated cleft palate, or cleft lip and palate. The multifactorial etiology of non-syndromic OFC underscores the importance of understanding the interplay between molecular genetics and environmental factors. We conducted a review of the literature to investigate folate metabolism in the context of OFC, with a particular focus on Methylenetetrahydrofolate reductase (MTHFR) and Reduced folate carrier-1 (RFC-1). The review aims to explore the role of folate metabolism, specifically examining the involvement of MTHFR and RFC-1, to elucidate mechanisms and identify potential prevention strategies for OFC. Methods: A comprehensive literature search was conducted across databases PubMed and Google Scholar with restriction to articles published in English from 1990 to 2024. Keywords folate metabolism, orofacial clefts, MTHFR, RFC-1, were used to retrieve studies investigating the relationship between folate metabolism, MTHFR, RFC-1, and OFC. Results: The search produced 184 articles. After excluding duplicities and applying other restrictions 17 articles were selected that highlighted the complex interplay between genetic and environmental factors in OFC etiology. Mutations in RFC-1 and MTHFR have been implicated in increasing OFC risk due to their roles in folate absorption and processing. However, data providing support for a direct role of polymorphisms in genes involved in folate metabolism in OFC pathogenesis are limited. Conclusion: Folate plays a critical role in DNA synthesis, methylation processes, and cell division, with deficiency linked to elevated homocysteine levels associated with OFC. Further research is needed to elucidate precise mechanisms underlying the association between genetic polymorphisms related to folate metabolism and OFC. This understanding could pave the way for personalized prevention approaches. Acknowledgements: Gratitude is extended to Dr. Tolarova and Dr. Tolar for their continued support and mentorship.
Comments/Acknowledgements
Presentation Category: Research