RESUMO
Background: Setleis syndrome (SS) is a focal facial dermal dysplasia presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is a rare autosomal recessive disorder caused by mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. Methods: We obtained gene expression profiles by microarray analyses from control and SS patient primary skin fibroblast and lymphoblastoid cell lines. Results: Out of 983 differentially regulated genes in fibroblasts (fold change ≥ 2.0), 479 were down-regulated and 509 were up-regulated, while in lymphoblasts, 1248 genes were down-regulated and 73 up-regulated. RT-PCR reactions confirmed altered expression of selected genes. Conclusions: TWIST2 is described as a repressor, but expression profiling suggests an important role in gene activation as well, as evidenced by the number of genes that are down-regulated, with a much higher proportion of down-regulated genes found in lymphoblastoid cells from an SS patient. As expected, both types of cell types showed dysregulation of cytokine genes. These results identify potential TWIST2 target genes in two important cell types relevant to rare disorders caused by mutations in this bHLH gene.
Assuntos
Proteínas Repressoras , Proteína 1 Relacionada a Twist , Displasia Ectodérmica , Fibroblastos , Displasias Dérmicas Faciais Focais , Perfilação da Expressão Gênica , Humanos , Proteínas Repressoras/genética , Proteína 1 Relacionada a Twist/genéticaAssuntos
Anemia Hipocrômica/epidemiologia , Complicações Hematológicas na Gravidez/epidemiologia , Anemia Hipocrômica/etiologia , Células Sanguíneas/análise , Análise Química do Sangue , Dieta , Feminino , Hemoglobinas/análise , Humanos , Gravidez , Complicações Hematológicas na Gravidez/etiologia , Trinidad e Tobago , Vitamina B 12/sangueAssuntos
Humanos , Gravidez , Feminino , Anemia Hipocrômica/epidemiologia , Complicações Hematológicas na Gravidez/epidemiologia , Anemia Hipocrômica/etiologia , Células Sanguíneas/análise , Análise Química do Sangue , Dieta , Hemoglobinas/análise , Complicações Hematológicas na Gravidez/etiologia , Trinidad e Tobago , Vitamina B 12/sangueRESUMO
At the Trinidad Nutrition Centre hemoglobin levels were determined in 555 pregnant women and a third of these were found to be less than 10 gm percent. Serum iron levels were diminished and total iron binding capacity increased wile the present saturation of TIBC was decreased in this anemic group. Serum folic acid levels were low but serum Vit. B12 levels normal. Average total protein intake was 56 gm (49 percent of animal and 51 percent of vegetable sources), representing a deficit of 26.8 percent in total protein intake. Average iron intake was 10.3 mg (20 percent of animal and 80 percent of vegetable sources), representing a 31.3 percent deficiency. In 84 percent of the patients anemia was of the hypochromic microcytic type. The authors intend to investigate further whether the high proportion of iron intake from vegetable sources plays any part in the production of anemia (AU)