Egyptian Journal of Medical Human Genetics (Mar 2024)
Genetic factors and the role of pancreatic amylase in the pathogenesis of type 2 diabetes
Abstract
Abstract 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.
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