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IGF-I deficiency and enhanced insulin sensitivity due to a mutated growth hormone receptor gene in humans
Molecular and Cellular Endocrinology ( IF 3.8 ) Pub Date : 2020-10-11 , DOI: 10.1016/j.mce.2020.111044
Jaime Guevara-Aguirre 1 , Carlos Torres 2 , Gabriela Peña 2 , María Palacios 2 , Camila Bautista 2 , Alexandra Guevara 3 , Antonio Wd Gavilanes 4
Affiliation  

Human size is achieved by the coordinated expression of many genes. From conception to adulthood, a given genomic endowment is modified by highly variable environmental circumstances. During each stage of a person's life, distinct nutritional and hormonal influences continuously shape growing physical features until mature characteristics are attained. Underlying processes depend on precise provision of substrates and energy extracted by insulin action from nutrients, which allows cell proliferation, differentiation, and survival, under the concerted actions of growth hormone and insulin-like growth factor-I (IGF-I). It should be noted that growth and metabolic signaling pathways are interdependent and superimposed at multiple levels. Attainment of a fully developed human phenotype should be considered as a harmonious increment in body size rather than a simple increase in height. From this perspective we herein analyze adult features of individuals with an inactive growth hormone receptor, who consequently have severely diminished concentrations of serum insulin and endocrine IGF-I.



中文翻译:

人类中生长激素受体基因突变导致的IGF-I缺乏症和胰岛素敏感性增强

人的大小是通过许多基因的协同表达来实现的。从受孕到成年,给定的基因组is赋会因高度可变的环境条件而发生变化。在一个人的生活的每个阶段中,独特的营养和荷尔蒙影响会不断影响身体的生长,直至获得成熟的特征。潜在的过程取决于底物的精确供应以及通过胰岛素作用从营养物质中提取的能量,从而使s细胞在生长激素和胰岛素样生长因子-I(IGF-I)的协同作用下增殖,分化和存活。应当注意,生长和代谢信号传导途径是相互依赖的,并且在多个水平上叠加。达到充分发展的人类表型应被认为是体型的和谐增加,而不是身高的简单增加。从这个角度,我们在本文中分析了具有失活的生长激素受体的个体的成人特征,这些个体因此严重降低了血清胰岛素和内分泌IGF-1的浓度。

更新日期:2020-10-12
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