RESUMEN
Hepatocyte nuclear factor 1α (HNF1α) is a transcription factor that is crucial for the regulation to maintain the function of pancreatic ß-cell, hepatic lipid metabolism, and other processes. Mature-onset diabetes of the young type 3 is a monogenic form of diabetes caused by HNF1α mutations. Although several mutation sites have been reported, the specific mechanisms remain unclear, such hot-spot mutation as the P291fsinsC mutation and the P112L mutation and so on. In preliminary studies, we discovered one MODY3 patient carrying a mutation at the c.493T>C locus of the HNF1α gene. In this study, we analyzed the pathogenic of the mutation sites by using the Mutation Surveyor software and constructed the eukaryotic expression plasmids of the wild-type and mutant type of HNF1α to detect variations in the expression levels and stability of HNF1α protein by using Western blot. The analyses of the Mutation Surveyor software showed that the c.493T>C site mutation may be pathogenic gene and the results of Western blot showed that both the amount and stability of HNF1α protein expressed by the mutation type plasmid were reduced significantly compared to those by the wild type plasmid (P<0.05). This study suggests that the c.493T>C (p.Trp165Arg) mutation dramatically impacts HNF1α expression, which might be responsible for the development of the disease and offers fresh perspectives for the following in-depth exploration of MODY3's molecular pathogenic process.
Asunto(s)
Diabetes Mellitus Tipo 2 , Factor Nuclear 1-alfa del Hepatocito , Células Secretoras de Insulina , Humanos , Diabetes Mellitus Tipo 2/genética , Factor Nuclear 1-alfa del Hepatocito/genética , Factor Nuclear 1-alfa del Hepatocito/metabolismo , Células Secretoras de Insulina/metabolismo , MutaciónRESUMEN
Investigating the composition of food sources with stable isotope method can provide direct evidence for the top-down control in the coastal wetland. In this study, we examined food source and feeding habit of Helice tientsinensis of common reed (Phragmites australis) vegetation in high marsh of Yellow River Delta. The results showed that the density of crab was (5.5±1.5) ind·m-2, with the behavior of climbing P. australis to feed on the leaves at night. Under the same indoor experimental condition, H. tientsinensis showed feeding preference on fresh leaves of P. aus-tralis. The stable isotope food source analysis showed that the leaves of P. australis were one of the important food sources of H. tientsinensis in the field. There were temporal variations in the proportion of fresh leaves [May: (6.4±4.9)%, July: (5.8±4.9)%, September: (12.5±8.8)%] and dead leaves [May: (12.4±7.8)%, July: (15.5±9.9)%, September: (15.1±9.4)%]. Therefore, H. tientsinensis could inhibit P. australis's growth and affect litter decomposition through feeding disturbance behavior.