RESUMO
Mandibular prognathism (MP) is regarded as a craniofacial deformity resulting from the combined effects of environmental and genetic factors, while the genetically predetermined component is considered to play an important role to develop MP. Although linkage and association studies for MP have identified multiple strongly associated regions and genes, the causal genes and variants responsible for the deformity remain largely undetermined. To address this, we performed targeted sequencing of 396 genes selected from previous studies as well as genes and pathways related with craniofacial development as primary candidates in 199 MP cases and 197 controls and carried out a series of statistical and functional analyses. A nonsynonymous common variant of MYO1H rs3825393, C>T, p.Pro1001Leu, was identified to be significantly associated with MP. During zebrafish embryologic development, expression of MYO1H orthologous genes were detected at mandibular jaw. Furthermore, jaw cartilage defects were observed in zebrafish knockdown models. Collectively, these data demonstrate that MYO1H is required for proper jaw growth and contributes to MP pathogenesis, expanding our knowledge of the genetic basis of MP.
Assuntos
Miosina Tipo I/genética , Polimorfismo de Nucleotídeo Único , Prognatismo/genética , Peixe-Zebra/embriologia , Animais , Cartilagem/metabolismo , Estudos de Casos e Controles , Cefalometria , Desenvolvimento Embrionário , Feminino , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização In Situ , Masculino , Prognatismo/diagnóstico por imagem , Prognatismo/metabolismo , Cauda/embriologia , Adulto JovemRESUMO
We have studied 19 patients with maxillo-facial trauma from the nutritional point at view. We observed that subjects with serious multiple fractures need a high caloric intake (a positive nitrogen balance is achieved by 100% of patients only when their intake is greater than or equal to 46 cal./kg/day) while patients with less serious fractures need lower caloric intake. The A. underline the importance of nutritional therapy in the patients with "intramaxillar fixation" both for the practical and psychological problems connected with their feeding and for the relationship between nutritional conditions and "metabolic response".
