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Carbohydrate metabolism
Published in Martin Andrew Crook, Clinical Biochemistry & Metabolic Medicine, 2013
Maturity-onset diabetes of the young (MODY): – MODY 1: mutation of the hepatocyte nuclear factor (HNF4A) gene,– MODY 2: mutation of the glucokinase gene,– MODY 3: mutation of the HNF1A gene.Some cases are thought to be point mutations in mitochondrial deoxyribonucleic acid (DNA) associated with diabetes mellitus and deafness and are usually autosomal dominant.
Mitochondrial Function in Diabetes: Pathophysiology and Nutritional Therapeutics
Published in Jeffrey I. Mechanick, Elise M. Brett, Nutritional Strategies for the Diabetic & Prediabetic Patient, 2006
Patients with MTDM typically have the phenotypic appearance of T2DM. Therefore, they are treated with conventional approaches for all T2DM: an appropriate diet, oral agents, and insulin depending on the severity of the glucose intolerance and idiosyncratic factors. Treatment of MODY1, MODY3, and MODY4 is with oral hypoglycemic agents, MODY5 and MODY6 with insulin, and MODY2 with diet and exercise [100]. Proven specific nutritional therapies for MTDM are lacking. For the most part, the medical literature discusses nutritional agents based on theoretical actions on mitochondrial physiology and limited scientific evidence.
Type 1A Diabetes as an Immunological Disorder
Published in Jack L. Leahy, Nathaniel G. Clark, William T. Cefalu, Medical Management of Diabetes Mellitus, 2000
Elizabeth Stephens, George S. Eisenbarth
A second group of patients has also been identified with an early-onset form of diabetes. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that has been intensively studied. It is characterized by familial diabetes, with an early age of onset (childhood, adolescence, or young adulthood), autosomal dominant inheritance, and a primary defect in insulin secretion (13). There is variability in the phenotype of subjects with MODY, and further studies have isolated some of the specific gene defects involved. These include mutations in genes on chromosome 20q (designated MODYl/hepatic nuclear factor-4a; HNF-4J, 7p (MODY2/glucokinase), and 12 q (MODY3/HNF- la; 13). MODY 2, which results from a defect in the glucokinase gene, results in mild postprandial hyperglycemia caused by reduced pancreatic beta-cell responsiveness to glucose and decreased accumulation of hepatic glycogen and increased hepatic gluconeo- genesis after eating. MODY 1 and 3 are characterized by severe insulin secretory defects, with associated fasting hyperglycemia and microvascular complications (13). Other MODY genes are likely to be identified in the future, as there are families who appear to have MODY, but do not have recognized mutations. The prevalence of MODY has been suggested to be 2-5% of those with type 2 diabetes (13). Patients with MODY can often be identified by the strong family history of diabetes and negative anti-islet autoantibodies.
The 2019 Flemish consensus on screening for overt diabetes in early pregnancy and screening for gestational diabetes mellitus
Published in Acta Clinica Belgica, 2020
Katrien Benhalima, Caro Minschart, Paul Van Crombrugge, Peggy Calewaert, Johan Verhaeghe, Siska Vandamme, Katrien Theetaert, Roland Devlieger, Leen Pierssens, Hannah Ryckeghem, Els Dufraimont, Chris Vercammen, Ann Debie, Christophe De Block, Griet Vandenberghe, Sylva Van Imschoot, Sabine Verstraete, Luk Buyse, Johan Wens, Joke Muyldermans, Anissa Meskal, Sandy De Spiegeleer, Chantal Mathieu
Not all gestational hyperglycaemia has the same aetiology. Autoimmune type 1 diabetes and undetected monogenetic forms of diabetes such as the maturity-onset diabetes of the young MODY-2 can be first revealed during pregnancy masquerading as impaired fasting glycaemia or GDM. People with MODY-2 have an inactivating mutation of the glucokinase gene, leading to a defect in glucose sensing and their glucose homeostasis is therefore maintained at a higher set point, resulting in a mild asymptomatic fasting hyperglycaemia [26]. Since glucose-lowering therapy is ineffective in people with MODY-2 and because of the lack of long-term complications, treatment is not recommended outside pregnancy. When both mother and child have the genetic mutation predisposing to MODY-2, the fetus has poor insulin secretion and treating maternal hyperglycaemia may result in inadequate intrauterine growth. In pregnancy, insulin treatment of the mother is therefore only appropriate when increased fetal growth on scanning suggests the fetus is unaffected [27].
Glucokinase activation as antidiabetic therapy: effect of nutraceuticals and phytochemicals on glucokinase gene expression and enzymatic activity
Published in Archives of Physiology and Biochemistry, 2021
Tereso J. Guzmán, Carmen M. Gurrola-Díaz
Osbak et al. (2009) gathered and reported a total of 620 natural-occurring GCK gene mutations of exons expressed in β-cells. Other studies have found mutations in the regulatory promoter sequence, such as the –71 G > C (Osbak et al. 2009). Also, de novo mutations of GCK gene have been reported and associated with MODY2. Data suggest that this type of mutations may be frequent in patients lacking familial history disease (Lopez et al. 2016).