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Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes
Egyptian Journal of Medical Human Genetics Pub Date : 2024-03-13 , DOI: 10.1186/s43042-024-00505-6
Mutiat A. Abdulkareem , Bunmi A. Owolabi , Emmanuel S. Saheed , Remilekun F. Aromolaran , Rukayat M. Bashiru , Toheeb A. Jumah , Doris U. Chijioke , Onyinyechi J. Amaechi , Fehintoluwa C. Adeleke , Omiyale O. Charles , Tunde S. Oluokun

This review article gives an insight into the genetic factors and the role of pancreatic amylase in type 2 diabetes (T2D). Diabetes is a non-communicable, multifactorial, heritable, complex, and irreversible disease of public health burden with a global prevalence rate of 6.28%, about 6% in sub-Saharan Africa, and 1.7% in Nigeria. T2D is recognized as the ninth leading cause of mortality worldwide. This disease is yet to be diagnosed in a significant number of people who live with it in underdeveloped and developing countries like Nigeria due to the lack of free or subsidized access to health care, especially medical checkups, inadequate health facilities, government policies, and negligence. Consequently, undiagnosed cases of T2D have contributed to the prevalence of this disease and its comorbidities -hypertension and chronic kidney disease. Obesity, age, race and ethnicity, inactivity, family history, underlying illness, and unhealthy diets are prominent undisputable predisposing factors of T2D. Pancreatic amylase is a type of amylase produced in the pancreas, known to hydrolyze starch and prone to mutations, but most of the genetic components, causative polymorphisms, and affected genes are yet unknown. Even as insulin secretion is found to be influenced by the loci, the causation of T2D cannot be inferred. Pancreatic amylase was observed to be the most relevant digestive enzyme, whose role is to bind to glycoprotein N-glycan to activate starch digestion. In a malfunctioning pancreas, little or no insulin is generated to keep the blood glucose at an appropriate level, thereby resulting in T2D.

中文翻译:

遗传因素和胰淀粉酶在2型糖尿病发病机制中的作用

这篇综述文章深入探讨了遗传因素以及胰淀粉酶在 2 型糖尿病 (T2D) 中的作用。糖尿病是一种非传染性、多因素、遗传性、复杂性和不可逆转的公共卫生负担疾病,全球患病率为6.28%,撒哈拉以南非洲地区约为6%,尼日利亚为1.7%。T2D 被认为是全球第九大死亡原因。在尼日利亚等欠发达国家和发展中国家,由于缺乏免费或有补贴的医疗服务,特别是体检、医疗设施不足、政府政策和疏忽,这种疾病尚未在尼日利亚等欠发达国家和发展中国家得到诊断。 。因此,未确诊的 T2D 病例导致了这种疾病及其合并症(高血压和慢性肾脏病)的流行。肥胖、年龄、种族和族裔、缺乏运动、家族史、基础疾病和不健康饮食是 T2D 无可争议的显着诱发因素。胰淀粉酶是胰腺​​中产生的一种淀粉酶,已知可以水解淀粉并且容易发生突变,但大多数遗传成分、致病多态性和受影响的基因尚不清楚。即使发现胰岛素分泌受到基因座的影响,也无法推断 T2D 的病因。据观察,胰淀粉酶是最相关的消化酶,其作用是与糖蛋白 N-聚糖结合以激活淀粉消化。胰腺功能障碍时,很少或根本不产生胰岛素来将血糖保持在适当的水平,从而导致 T2D。
更新日期:2024-03-13
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