| Revue: | Genetics and molecular biology |
| Base de datos: | PERIÓDICA |
| Número de sistema: | 000459289 |
| ISSN: | 1415-4757 |
| Autores: | Campos, Julliane Tamara Araújo de Melo1 Oliveira, Matheus Sena de1 Soares, Luisa Pessoa1 Medeiros, Katarina Azevedo de2 Campos, Leonardo René dos Santos3 Lima, Josivan Gomes4 |
| Instituciones: | 1Universidade Federal do Rio Grande do Norte, Departamento de Biologia Celular e Genetica, Natal, Rio Grande do Norte. Brasil 2Universidade Federal do Rio Grande do Norte, Faculdade de Ciencias da Saude do Trairi, Santa Cruz, Rio Grande do Norte. Brasil 3Universidade Federal do Rio Grande do Norte, Ambiente Multidisciplinar de Bioinformatica, Natal, Rio Grande do Norte. Brasil 4Universidade Federal do Rio Grande do Norte, Hospital Universitario Onofre Lopes, Natal, Rio Grande do Norte. Brasil |
| Año: | 2022 |
| Volumen: | 45 |
| Número: | 3 |
| País: | Brasil |
| Idioma: | Inglés |
| Tipo de documento: | Artículo |
| Enfoque: | Descriptivo |
| Resumen en inglés | Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis |
| Disciplinas: | Biología |
| Palabras clave: | Genética, Reparación genética, ADN, Adipogénesis, Lipodistrofias congénitas, Revisión bibliográfica |
| Keyword: | Genetics, Genetic repairment, DNA, Bibliographic review, Adipogenesis, Genetic lipodystrophies |
| Texte intégral: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
