| Revista: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000459214 |
| ISSN: | 1415-4757 |
| Autors: | Silva, Gerda Cristal Villalba1 Borsatto, Taciane2 Schwartz, Ida Vanessa Doederlein1 Sperb Ludwig, Fernanda1 |
| Institucions: | 1Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul. Brasil 2Hospital de Clinicas de Porto Alegre, Centro de Pesquisa Experimental, Porto Alegre, Rio Grande do Sul. Brasil |
| Any: | 2022 |
| Volum: | 45 |
| Número: | 1 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Experimental, analítico |
| Resumen en inglés | Reduced biotinidase activity is associated with a spectrum of deficiency ranging from total deficiency to heterozygous levels, a finding that is not always explained by the pathogenic variants observed in the BTD gene. The investigation of miRNAs, regulatory elements and variants in the 3’UTR region may present relevance in understanding the genotype-phenotype association. The aims of the study were to characterize the regulatory elements of the 3’UTR of the BTD gene and identify variants and miRNAs which may explain the discrepancies observed between genotype and biochemical phenotype. We evaluated 92 individuals with reduced biotinidase activity (level of heterozygotes = 33, borderline = 35, partial DB = 20 or total DB= 4) with previously determined BTD genotype. The 3’UTR of the BTD gene was Sanger sequenced. In silico analysis was performed to identify miRNAs and regulatory elements. No variants were found in the 3’UTR. We found 97 possible miRNAs associated with the BTD gene, 49 predicted miRNAs involved in the alanine, biotin, citrate and pyruvate metabolic pathways and 5 genes involved in biotin metabolism. Six AU-rich elements were found. Our data suggest variants in the 3'UTR of BTD do not explain the genotype-phenotype discrepancies found in Brazilian individuals with reduced biotinidase |
| Disciplines | Biología, Medicina |
| Paraules clau: | Genética, Medicina experimental, Biotinidasa, Gen BTD, MicroARNs |
| Keyword: | Genetics, Experimental medicine, MicroRNAs, BTD gene, Biotinidase |
| Text complet: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
