Pathogenic genes and adipogenic differentiation transcription factor PPARγ associated with congenital lipodystrophic diabetes.
10.3760/cma.j.issn.1003-9406.2019.08.023
- Author:
Xuan ZHANG
1
;
Yuanyuan QIN
;
Faquan LIN
Author Information
1. Department of Laboratory Medicine, the First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, China. fqlin@163.com.
- Publication Type:Journal Article
- MeSH:
Cell Differentiation;
Diabetes Mellitus;
genetics;
Humans;
Insulin Resistance;
Lipodystrophy, Congenital Generalized;
genetics;
PPAR gamma;
genetics;
Transcription Factors
- From:
Chinese Journal of Medical Genetics
2019;36(8):844-847
- CountryChina
- Language:Chinese
-
Abstract:
Congenital lipodystrophic diabetes (CLD) is a rare genetic disease characterized by generalized or topical subcutaneous fat loss combined with various metabolic disorders such as insulin resistance, dyslipidemia, and impaired glucose tolerance. Recent studies have discovered genes underlying the disease. Mutations of such genes are associated with adipogenic anomaly, especially regulational function of peroxisome proliferators-activated receptor γ (γPPAR) for lipid. This paper has provided a review for the main clinical symptoms, classification, pathogenic genes, molecular mechanism and the relationship between PPARγ and fat loss.