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Epigenetic determinants of diabetes and the metabolic syndrome.
Recent studies by the Diabetes and Endocrinology group at Blacktown have demonstrated that maternal diabetes in pregnancy produces offspring with an increased incidence of obesity and Type 2 Diabetes, and this is in excess of what would be expected from genetic factors alone. Foetal programming through epigenetic modification of gene expression is a likely mechanism of this phenomenon.
Ethnic diversity in the pathogenesis of Gestational Diabetes.
Pregnancy creates a hormonal challenge to a woman’s metabolic homeostasis and in approximately 10% of women this results in late pregnancy hyperglycaemia (gestational diabetes mellitus). This phenomenon is much more common in women from certain racial backgrounds, suggesting a genetic predisposition. Examination of polymorphisms of identifiable diabetes susceptibility genes may identify novel mechanisms of pathogenesis of GDM.
A nutrigenomic approach in treatment of patients with GLUT 1 Deficiency Syndrome (GLUT1-DS).
The aim is to examine the diversity and extent of variations in the glucose transporter 1 (GLUT1) gene in patients with GLUT1 Deficiency Syndrome (GLUT1-DS) and to identify variations associated with patient resistance to a ketogenic diet. Developmental delay, infantile epilepsy, acquired microcephaly and hypoglychorrachia are features of glucose transporter type 1 (GLUT1) deficiency syndrome, a neurometabolic disorder caused by inheritable mutations in the gene SLC2A1. This mutation reduces the function of GLUT1 in the blood brain barrier and thus limits brain glucose accessibility. Early diagnosis is currently based on a lumbar puncture and available treatments are successful only for some patients. The cerebral metabolic rate for glucose increases during infancy and patients become symptomatic gradually. The importance of early diagnosis is crucial for the prevention of neurometabolic disorders as they could be treated by a specific diet.
Pharmacogenomics of response and toxicity to anti-psychotic agents.
Responsiveness to newer antipsychotic agents such as clozapine is known to be determined by phenotype for drug metabolising enzymes (e.g. CYP 2D6) and some CNS receptors. A large cohort of patients with psychotic disorders, from diverse cultural backgrounds, is managed by the Blacktown Mental Health Unit. Studies could be undertaken to explore the association between polymorphisms of candidate genes and the response to treatment or development of toxicity from anti-psychotic agents.
Last Updated: 16 Jan 2012
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