Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
PneumoCardioVascular Lab/HUOL, Hospital Universitário Onofre Lopes, Empresa Brasileira de Serviços Hospitalares and Departamento de Fisioterapia, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil.
Biochim Biophys Acta Mol Basis Dis. 2021 Jun 1;1867(6):166120. doi: 10.1016/j.bbadis.2021.166120. Epub 2021 Mar 11.
Lipodystrophy syndromes are a group of rare diseases related to the pathological impairment of adipose tissue and metabolic comorbidities, including dyslipidemia, diabetes, insulin resistance, hypoleptinemia, and hypoadiponectinemia. They can be categorized as partial or generalized according to the degree of fat loss, and inherited or acquired disorders, if they are associated with genetic mutations or are related to autoimmunity, respectively. Some types of lipodystrophies have been associated with changes in both redox and endoplasmic reticulum (ER) homeostasis as well as muscle dysfunction (MD). Although ER stress (ERS) has been related to muscle dysfunction (MD) in many diseases, there is no data concerning its role in lipodystrophies' muscle physiopathology. Here we focused on congenital lipodystrophies associated with ERS and MD. We also described recent advances in our understanding of the relationships among ERS, MD, and genetic lipodystrophies, highlighting the adiponectin-protective roles.
脂肪营养不良综合征是一组与脂肪组织病理性损伤和代谢合并症相关的罕见疾病，包括血脂异常、糖尿病、胰岛素抵抗、瘦素血症和脂联素血症。根据脂肪丢失的程度，它们可以分为部分或全身性；根据是否与基因突变相关（遗传性）或是否与自身免疫相关（获得性）。一些类型的脂肪营养不良症与氧化还原和内质网（ER）稳态以及肌肉功能障碍（MD）的变化有关。尽管 ER 应激（ERS）已与许多疾病中的肌肉功能障碍（MD）有关，但关于其在脂肪营养不良症肌肉病理生理学中的作用尚无数据。在这里，我们专注于与 ERS 和 MD 相关的先天性脂肪营养不良症。我们还描述了我们对 ERS、MD 和遗传性脂肪营养不良症之间关系的最新理解的进展，强调了脂联素的保护作用。
