Vztah mezi mutacemi v genu pro MSX1 a agenezemi zubů v české populaci
| Title in English | The Relationship between MSX1 Gene Mutations and Tooth Agenesis in Czech Population |
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| Year of publication | 2012 |
| Type | Conference abstract |
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| Citation | |
| Description | Reduced number of teeth (hypodontia) is the most prevalent malformation of human dentition. Tooth development (odontogenesis) is a very complicated and complex process that involves interplay between oral ectoderm and neural crest derived mesenchyme cell. These reciprocal interactions are mediated by more than 300 signaling molecules including Pax9, Msx1 and Axin2. Mutations in these genes were associated with isolated (non-syndromic) form of hypodontia. Msx1 (member of muscle segment genes family) is a transcriptional factor containing DNA-binding homeodomain that is able to interact with other members of transcriptional complex including Pax9. Its expression was observed only in dental mesenchyme. The aim of this work was to study the both exons sequences of MSX1 gene. DNA from patients was isolated with UltraClean BloodSpin DNA Isolation Kit (Mo-Bio). Blood samples or buccal swabs from 200 Czech patients with various types of tooth agenesis were used for this purpose. Amplicons were sequenced with ABI 3130 Prism (Applied Biosystems). Finally, sequences were compared with standard sequences of MSX1 gene. Mutations were described according their possible effect to the protein structure. We identified novel heterozygous MSX1 gene mutation that may cause amino acid substitutions Ala40Gly. This mutation was found also in control group. Furthermore, there were found some introns mutations and no amino acid change mutation. These changes in nucleotide structure of gene have no direct effect on protein structure but they could involve stability and regulation of mRNA. The future research will be focused on family studies and relationship between mutations in MSX1 gene and tooth agenesis (hypodontia, oligodontia) and on other genes for molecules connecting to odontogenesis. |
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