A case report of CAT gene and HNF1β gene variations in a patient with early-onset diabetes

Author:

Cui Tao1,Ju Hai-Bing1,Liu Peng-Fei2,Ma Yun-Jun3,Zhang Fu-Xian1

Affiliation:

1. Department of Endocrine, 920th Hospital of Joint Logistics Support Force of the Chinese People’s Libration Army , Xishan District , Kunming 650032 , China

2. Department of Ophthalmology, Western Theater Command Air Force Hospital , Chengdu 610000 , China

3. Department of Psychiatry, 920th Hospital of Joint Logistics Support Force of the Chinese People’s Libration Army , Kunming 650032 , China

Abstract

Abstract Complex forms of diabetes are the ultimate common pathway involving multiple genetic variations and multiple environmental factors. Type 2 diabetes (T2DM) is classified as complex diabetes. Varying degrees of insulin deficiency and tissue insulin resistance are two key links to T2DM. The islet β cell dysfunction plays a crucial role in the pathogenesis of T2DM. The decompensation of the islet β cell to insulin resistance is a common mechanism leading to the pathogenesis of T2DM. Available data show that genetic factors mainly affect cell function. At present, a number of susceptibility genes related to T2DM have been reported at home and abroad. In this study, the diabetes-related genes in the case of early-onset diabetes with a significant family history were examined, and our results showed the presence of the intron mutations of catalase (CAT) gene and hepatocyte nuclear factor 1β (HNF1β) gene. The patient enrolled in this study was observed and analyzed, thus, increasing further understanding of the genes associated with diabetes and exploring the pathogenesis of diabetes from the molecular level. This is significant for guiding the prevention, treatment, and prognosis evaluation of diabetes.

Publisher

Walter de Gruyter GmbH

Subject

General Agricultural and Biological Sciences,General Immunology and Microbiology,General Biochemistry, Genetics and Molecular Biology,General Neuroscience

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