نتایج جستجو برای: ژن kcnj11
تعداد نتایج: 16247 فیلتر نتایج به سال:
Hyperinsulinemic hypoglycemia (HH) is a consequence of unregulated insulin secretion by pancreatic b-cells. Congenital HH is caused by mutations in genes involved in regulation of insulin secretion (ABCC8, KCNJ11, GLUD1, CGK, HADH, SLC16A1, HNF4A and UCP2). Severe forms of congenital HH are caused by inactivating mutations in ABCC8 and KCNJ11, which encode the two components of the pancreatic b...
مقدمه: چاقی یک ناهنجاری چند عاملی بوده و مهم‌ترین فاکتور خطرساز بیماری دیابت نوع 2 (T2D)محسوب می‌شود. در افراد چاق واریانت E23K ژن KCNJ11 به‌واسطه‌ی اسیل کوآ زنجیره‌ی بلند تجمع یافته در سلول‌های بتا پانکراس سبب کمبود ترشح انسولین شده، و ابتلا به دیابت نوع 2 را تسهیل می‌نماید. چندین پژوهش، ارتباط واریانت E23K با T2D و چاقی در جمعیت‌های مختلف را گزارش کرده‌اند. هدف پژوهش حاضر، احراز پیوستگی احتما...
BACKGROUND Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be treated by oral sulfonylurea drugs instead of insulin therapy. This diagnosis is currently based on Sanger sequencing of at least 42 PCR fragments from the KCNJ11, ABCC8, and INS genes. Here, we assessed the ...
P revious studies have reported the successful switch from insulin to sulfonylrea therapy in some patients who have neonatal diabetes due to KCNJ11 mutations (1); however, data on adults are limited (2,3). Also, it has not yet been determined whether neurological symptoms can be improved by the action of sulfonylrea therapy. Here, we report the glycemic and neurological responses in an adult pa...
Introduction: One of the most widely used anti-diabetic drugs is sulfonylureas, which is often used as one of the first-line drugs in the treatment of type 2 diabetes. Due to the effect of the patient's genetic structure on the drug response (personalized medicine), the identification of genetic variations not only reduces the rate of adverse drug reactions but can also predict the effectivenes...
BACKGROUND Permanent neonatal diabetes mellitus (PNDM) is a rare disease, which is defined as the onset of diabetes before the age of 6 months with persistence through life. Infants with KCNJ11 or ABCC8 genetic mutations may respond to oral sulfonylurea therapy. Currently, there are limited studies about the genetic analysis and long-term follow-up of PNDM. CASE PRESENTATION We report four ca...
M utations of the KCNJ11 gene are a common cause of permanent neonatal diabetes (PNDM) (1,2) and sometimes result in other diabetic phenotypes (2). Sulfonylureas (SUs) are effective and safe in most diabetic KCNJ11 mutation carriers (3). However, their application risk is sometimes uncertain. We have previously described glibenclamide use in a pregnant woman with KCNJ11-related PNDM (4); for th...
BACKGROUND The association of type 2 diabetes mellitus (T2DM) with the KCNJ11, CDKAL1, SLC30A8, CDKN2B, and FTO genes in the Russian population has not been well studied. In this study, we analysed the population frequencies of polymorphic markers of these genes. METHODS The study included 862 patients with T2DM and 443 control subjects of Russian origin. All subjects were genotyped for 10 si...
Diabetes mellitus (DM) is a major worldwide health problem and its prevalence has been rapidly increasing in the last century. It is caused by defects in insulin secretion or insulin action or both, leading to hyperglycemia. Of the various types of DM, type 2 occurs most frequently. Multiple genes and their interactions are involved in the insulin secretion pathway. Insulin secretion is mediate...
V arious cross-sectional studies suggest that a polymorphism (E23K) within the ATP-sensitive K channel KCNJ11 gene is associated with type 2 diabetes (1). However, only two prospective studies have addressed the relation between KCNJ11 E23K and type 2 diabetes, and these studies were intervention trials based on individuals with impaired fasting glucose and impaired glucose tolerance (2–4). Wit...
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