糖尿病相关的TCF7L2变异对人类岛屿功能的纵向影响
Maya Zeini1, Marcello C Laurenti1, Aoife M Egan1
1Division of Endocrinology, Diabetes & Metabolism, Mayo Clinic College of Medicine, Rochester, MN.
Diabetes
|June 13, 2024
概括
TCF7L2 rs7903146的T等位基因通过导致早期的α细胞功能障碍,加速了2型糖尿病的进展. 这种阿尔法细胞异常在葡萄糖不耐症中先于β细胞损伤.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 代谢疾病 代谢疾病
背景情况:
- 在TCF7L2中rs7903146的T等位基因与2型糖尿病风险增加有关.
- 这种遗传变异与β细胞功能受损和缺陷的葡萄糖抑制α细胞分泌有关.
- 这些小岛细胞异常的确切时间尚不清楚.
研究的目的:
- 为了研究与TCF7L2 rs7903146基因型有关的小岛功能纵向变化.
- 确定阿尔法细胞和β细胞功能障碍在葡萄糖不耐症发展中的时间关系.
主要方法:
- 招募了128名受试者,其中67人具有TT基因型,61人具有RS7903146.6的保护性基因型.
- 参与者在基线和3年后接受了口服葡萄糖耐受性测试.
- 使用口服最小模型量化β细胞功能,并通过解密估计的葡萄糖分泌率.
主要成果:
- 在具有TT基因型的人群中,葡萄糖耐受性在3年内恶化.
- TT基因型与挑战后葡萄糖抑制受损有关.
- 贝塔细胞对葡萄糖的反应仍然适当,这表明阿尔法细胞功能障碍更早发生.
结论:
- 与TCF7L2 TT基因型 (rs7903146) 相关的α细胞异常在进展到2型糖尿病的早期出现.
- 这些α细胞缺陷可能会先于β细胞功能障碍的发展.
- 了解这个序列可以为预防2型糖尿病的策略提供信息.
相关概念视频
Carbohydrate Metabolism
11.0K
Carbohydrates are polymers composed of molecules containing atoms of carbon, hydrogen and oxygen. One gram of carbohydrate can provide four kilo-calories of energy, which makes it the most efficient instant energy source.
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in...
Starch accounts for approximately 60% of the carbohydrates consumed by humans. Since amylase enzymes cannot function in the stomach's acidic environment, starch can only be digested in the mouth and small intestine. Simple sugars are found naturally in milk and fruits in...
11.0K
Diabetes Mellitus: Overview and Type I Subtype
2.6K
Diabetes mellitus is a chronic metabolic disorder characterized by high blood glucose levels due to inadequate insulin production, insulin resistance, or both. The condition affects millions worldwide and can significantly impact their health and quality of life.
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
Type 1 diabetes is an autoimmune disease in which the immune system mistakenly attacks and destroys the insulin-producing beta cells in the pancreas. As a result, the body is unable to produce sufficient insulin, and individuals with...
2.6K
Pathophysiology of Diabetes
919
Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia. The four categories of diabetes are type 1 diabetes, type 2 diabetes, other specific types of diabetes, and gestational diabetes.
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility,...
919
Diabetes Mellitus: Type 2 and Gestational
2.3K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.3K
Diabetes: Symptoms, Diagnosis, and Complications
522
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
522


