RESUMO
Feingold syndrome (FS) is an autosomal dominant disorder characterized by microcephaly, short stature, digital anomalies, esophageal/duodenal atresia, facial dysmorphism, and various learning disabilities. Heterozygous deletion of the miR-17-92 cluster is responsible for a subset of FS (Feingold syndrome type 2, FS2), and the developmental abnormalities that characterize this disorder are partially recapitulated in mice that harbor a heterozygous deletion of this cluster (miR-17-92∆/+ mice). Although Feingold patients develop a wide array of learning disabilities, no scientific description of learning/cognitive disabilities, intellectual deficiency, and brain alterations have been described in humans and animal models of FS2. The aim of this study was to draw a behavioral profile, during development and in adulthood, of miR-17-92∆/+ mice, a genetic mouse model of FS2. Moreover, dopamine, norepinephrine and serotonin tissue levels in the medial prefrontal cortex (mpFC), and Hippocampus (Hip) of miR-17-92∆/+ mice were analyzed.Our data showed decreased body growth and reduced vocalization during development. Moreover, selective deficits in spatial ability, social novelty recognition and memory span were evident in adult miR-17-92∆/+ mice compared with healthy controls (WT). Finally, we found altered dopamine as well as serotonin tissue levels, in the mpFC and Hip, respectively, of miR-17-92∆/+ in comparison with WT mice, thus suggesting a possible link between cognitive deficits and altered brain neurotransmission.
Assuntos
Encéfalo/fisiopatologia , Pálpebras/anormalidades , Deficiência Intelectual/fisiopatologia , Deformidades Congênitas dos Membros/fisiopatologia , Transtornos Mentais/genética , Microcefalia/fisiopatologia , Fístula Traqueoesofágica/fisiopatologia , Animais , Comportamento Animal/fisiologia , Modelos Animais de Doenças , Pálpebras/fisiopatologia , Feminino , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/genética , Masculino , Camundongos , Camundongos Endogâmicos C57BL , MicroRNAs/genética , Microcefalia/complicações , Microcefalia/genética , Fístula Traqueoesofágica/complicações , Fístula Traqueoesofágica/genéticaRESUMO
Astyanax is among the most speciose genera in the Characidae. In this study, molecular markers were used to assess the extent to which some of the commonly recognized Astyanax species of the upper Iguaçu River correspond to natural groups. These results indicate that the diversity of Astyanax has been severely underestimated with several potential cryptic species.