ABSTRACT
The hot spot mutation P291fsinsC was identified for the first time in a 26 years old Tunisian woman. The low serum level of high C-reactive protein was helpful to target the HNF1A gene. Due to the molecular diagnosis, the change from insulin to sulfonylurea therapy was performed successfully.
Subject(s)
DNA/genetics , Diabetes Mellitus, Type 2/drug therapy , Hepatocyte Nuclear Factor 1-alpha/genetics , Insulin/administration & dosage , Mutation , Sulfonylurea Compounds/administration & dosage , Administration, Oral , Adolescent , Adult , DNA Mutational Analysis , Diabetes Mellitus, Type 2/genetics , Diabetes Mellitus, Type 2/metabolism , Female , Hepatocyte Nuclear Factor 1-alpha/metabolism , Humans , Hypoglycemic Agents/administration & dosage , Injections, Intramuscular , Male , Pedigree , TunisiaABSTRACT
We present an update of knowledge on diabetes MODY (maturity onset diabetes of the young), including the recent molecular discoveries, and new diagnostic strategies. Considerable progress has been made in understanding the different molecular abnormalities that cause MODY and the phenotypic consequences resulting therefrom. MODY diabetes is very heterogeneous and is the most common form of monogenic diabetes. Its distribution is worldwide. MODY is an autosomal dominant diabetes mellitus, nonketotic and occurs at an early age (usually before 25 years). To date, at least seven genes are associated with MODY, with frequencies that differ from one population to another. Both 2 and 3 subtypes predominate, while other subtypes (1, 4, 5, 6 and 7) concern only a few families. Since its discovery in the sixties, studies have succeeded to fully clarify the epidemiological, molecular and clinical diagnosis of each subtype, to provide better care for patients. However, the subject of MODY has not yet revealed all its secrets. Indeed, it remains to identify other genes that are associated with MODY X.
Subject(s)
Biomedical Research/trends , Diabetes Mellitus, Type 2/etiology , Endocrinology/trends , Diabetes Mellitus, Type 2/classification , Diabetes Mellitus, Type 2/diagnosis , Diabetes Mellitus, Type 2/therapy , Endocrinology/methods , Genotype , Geography , Humans , Models, Biological , Pathology, Molecular/trends , Phenotype , Terminology as TopicABSTRACT
BACKGROUND: In beta-thalassemia major impaired biosynthesis of beta globin leads to accumulation of unpaired alpha globin chain. An iron overload, usually observed, generates oxygen-free radicals and peroxidative tissue injury. AIM: To investigate hematological parameters, oxidative stress and the antioxidant capacity in beta-thalassemia patients compared to control subjects in order to determine their impact in several organs functions. METHODS: This study was conducted on 56 beta-thalassemia major patients compared to 51 healthy subjects. We determined metabolic parameters (glycaemia, lipid parameters, electrolytes, iron indices, hepatic, renal and heart functions tests), plasmatic thiobarbituric acid reactive substances (TBARS), plasmatic peroxyl radical trapping potential (TRAP), plasmatic superoxide dismutase (SOD), erythrocyte gluthathione peroxidase (GPX), plasmatic vitamin E, vitamin A and trace elements. RESULTS: Except triglycerides, lipid fractions were significantly decreased in beta-thalassemia compared to controls. Serum ferritin, iron, TBARS concentrations, SOD and GPX activities were significantly increased. But TRAP, vitamin E and zinc concentrations were significantly decreased. CONCLUSION: Our findings confirm the peroxidative status generated by iron overload in beta-thalassemia major patients and highlight the rapid formation of marked amounts of TBARS and the increase of SOD and GPX activity. Our study suggested that in beta-thalassemia the first organ impaired is the liver.
