Student Theses and Dissertations
Date of Award
2001
Document Type
Thesis
Degree Name
Doctor of Philosophy (PhD)
Thesis Advisor
Markus Stoffel
Keywords
Maturity-onset diabetes of the young (MODY), insulin secretion, transcription factors, genetic mutations, glucokinase, transcriptional network
Abstract
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.
License and Reuse Information
This work is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 4.0 International License.
Recommended Citation
Shih, David Quan, "Genetic and Molecular Analysis of Islet-and Liver-Enriched Transcription Factors in Metabolism and Development" (2001). Student Theses and Dissertations. 447.
https://digitalcommons.rockefeller.edu/student_theses_and_dissertations/447
Comments
A thesis presented to the faculty of The Rockefeller University in partial fulfillment of the requirements for the degree of Doctor of Philosophy