Endoplasmic reticulum stress and muscle dysfunction in congenital lipodystrophies

被引：7

作者：

Araujo de Melo Campos, Julliane Tamara ^{[1
]}

Dantas de Medeiros, Jorge Luiz ^{[2
,3
]}

Cardoso de Melo, Maria Eduarda ^{[1
]}

Alvares da Silva, Monique ^{[1
]}

de Sena, Matheus Oliveira ^{[1
]}

Craveiro Sarmento, Aquiles Sales ^{[4
]}

Agnez Lima, Lucymara Fassarella ^{[1
]}

de Freitas Fregonezi, Guilherme Augusto ^{[2
,3
,5
]}

Lima, Josivan Gomes ^{[6
]}

机构：

[1] Univ Fed Rio Grande do Norte, Ctr Biociencias, Dept Biol Celular & Genet, Lab Biol Mol & Genom, Natal, RN, Brazil

[2] Univ Fed Rio Grande do Norte, PneumoCardioVasc Lab HUOL, Hosp Univ Onofre Lopes, Empresa Brasileira Serv Hosp, Natal, RN, Brazil

[3] Univ Fed Rio Grande do Norte, Dept Fisioterapia, Natal, RN, Brazil

[4] UFS, Unidade Lab Anal Clin & Anat Patol, Hosp Univ Lagarto HUL, Lagarto, SE, Brazil

[5] Univ Fed Rio Grande do Norte, Dept Fisioterapia, Lab Inovacao Tecnol Reabilitacao, Natal, RN, Brazil

[6] Univ Fed Rio Grande do Norte, Hosp Univ Onofre Lopes HUOL, Dept Med Clin, Natal, RN, Brazil

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE | 2021年 / 1867卷 / 06期

关键词：

Inherited lipodystrophies; ER stress; Muscle dysfunctions; UNFOLDED PROTEIN RESPONSE; FAMILIAL PARTIAL LIPODYSTROPHY; ER-STRESS; GENERALIZED LIPODYSTROPHY; OXIDATIVE STRESS; SKELETAL-MUSCLE; LAMIN A/C; NUCLEAR LAMINS; LIPID-METABOLISM; DOWN-REGULATION;

D O I：

10.1016/j.bbadis.2021.166120

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：19

共 195 条

[71] Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene [J].