CLEFT LIP AND PATE AND ANIMAL PROTEIN IN MATERNAL DIET

The etiology of nonsyndromic cleft lip with or without cleft palate (N/CLP) is multifactorial (genetic and environmental factors). Polymorphisms of several candidate genes have been identified and it is our understanding that they create a “susceptibility” for N/CLP that requires an environmental triggers for developing a cleft. Among environmental factors, the most important are those in maternal diet and lifestyle

CLEFT LIP AND PATE AND ANIMAL PROTEIN IN MATERNAL DIET

The etiology of nonsyndromic cleft lip with or without cleft palate (N/CLP) is multifactorial (genetic and environmental factors). Polymorphisms of several candidate genes have been identified and it is our understanding that they create a “susceptibility” for N/CLP that requires an environmental triggers for developing a cleft. Among environmental factors, the most important are those in maternal diet and lifestyle

HOW TO CRACK YOUR GENETIC CODE FROM ONE DROP OF SALIVA

Molecular genetics is without any doubt an important diagnostic tool in medicine and rapidly becoming more and more used in dentistry. Many common conditions in dentistry have a specific genetic background: not only craniofacial anomalies, but also root resorption, periodontitis, hypodontia. Numerous efficient tests for specific single nucleotide polymorphisms are available. However, sometimes the very first step – to obtain a specimen suitable for DNA analysis - may close the door to clarify genetic diagnosis and thus help with treatment planning, prognostic assessment, and counseling about prevention. An excellent source for DNA analysis is the buccal epithelial cells that exfoliate from the inner epithelial linings of the oral cavity

HOW TO CRACK YOUR GENETIC CODE FROM ONE DROP OF SALIVA

Molecular genetics is without any doubt an important diagnostic tool in medicine and rapidly becoming more and more used in dentistry. Many common conditions in dentistry have a specific genetic background: not only craniofacial anomalies, but also root resorption, periodontitis, hypodontia. Numerous efficient tests for specific single nucleotide polymorphisms are available. However, sometimes the very first step – to obtain a specimen suitable for DNA analysis - may close the door to clarify genetic diagnosis and thus help with treatment planning, prognostic assessment, and counseling about prevention. An excellent source for DNA analysis is the buccal epithelial cells that exfoliate from the inner epithelial linings of the oral cavity

MTHFR 677CT POLYMORPHISM AND CLEFT LIP AND PALATE ANOMALIES

A sufficient bioavailability of active folate seems to be important for normal early development of the embryo. Maternal folate insufficiency has been found more frequently in spina bifida and nonsyndromic cleft lip and/or palate (NCLP). It may be due to a mutation of a folate pathway gene or a low dietary intake

MTHFR 677CT POLYMORPHISM AND CLEFT LIP AND PALATE ANOMALIES

A sufficient bioavailability of active folate seems to be important for normal early development of the embryo. Maternal folate insufficiency has been found more frequently in spina bifida and nonsyndromic cleft lip and/or palate (NCLP). It may be due to a mutation of a folate pathway gene or a low dietary intake

ASSOCIATION OF REDUCED FOLATE CARRIER ONE GENE 80AG POLYMORPHISM WITH NONSYNDROMIC CLEFT LIP AND PALATE

Mutations in folate pathway genes have been shown to be associated with several birth defects including neural tube defects, conotruncal heart defects, and nonsyndromic cleft lip and palate (NCLP). For the last decade, we studied polymorphisms of those genes in cleft populations. The Reduced Folate Carrier One gene (RFC1, also known as SLC19A1) encodes for a cellular surface transmembrane protein that provides transport of folate from diet through the cell membrane. Several single nucleotide polymorphisms (SNP) of the RFC1 gene exist and one common SNP in the RFC1 gene – 80AG has been studied in NCLP populations

ASSOCIATION OF REDUCED FOLATE CARRIER ONE GENE 80AG POLYMORPHISM WITH NONSYNDROMIC CLEFT LIP AND PALATE

Mutations in folate pathway genes have been shown to be associated with several birth defects including neural tube defects, conotruncal heart defects, and nonsyndromic cleft lip and palate (NCLP). For the last decade, we studied polymorphisms of those genes in cleft populations. The Reduced Folate Carrier One gene (RFC1, also known as SLC19A1) encodes for a cellular surface transmembrane protein that provides transport of folate from diet through the cell membrane. Several single nucleotide polymorphisms (SNP) of the RFC1 gene exist and one common SNP in the RFC1 gene – 80AG has been studied in NCLP populations

PAX9 GENE POLYMORPHISMS AND MISSING TEETH

It was shown in both mouse and human tooth development that PAX9 and MSX1 are the most important genes regulating progression through early stages of tooth development. These genes are encoding transcription factors involved in epithelial/mesenchymal interactions. Their key function seems to be maintenance and regulation of Bmp4 expression in dental mesenchyme. If the functions of PAX9 and MSX1 are disturbed, the tooth will not develop