Date of Award
Doctor of Philosophy (PhD)
Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease-onset, autosomal dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least six genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4α,HNF-1α, PDX-1, HNF-1β, and NEURO-D1/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic β-cells, and the insulin gene also lead to impaired glucose tolerance. Using molecular and genetic approaches, we demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that plays an essential role in development and in different metabolic pathways.
Shih, David Quan, "Genetic and Molecular Analysis of Islet-and Liver-Enriched Transcription Factors in Metabolism and Development" (2001). Student Theses and Dissertations. 447.