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Publication

Insights into obesity and diabetes at the intersection of mouse and human genetics.

Authors Kebede MA, Attie AD Submitted By Alan Attie on 8/5/2014 Status Published Journal Trends in endocrinology and metabolism: TEM Year 2014 Date Published 7/14/2014 Volume : Pages 25 : 493 - 501 PubMed Reference Abstract Many of our insights into obesity and diabetes come from studies in mice carrying natural or induced mutations. In parallel, genome-wide association studies (GWAS) in humans have identified numerous genes that are causally associated with obesity and diabetes, but discovering the underlying mechanisms required in-depth studies in mice. We discuss the advantages of studying natural variation in mice and summarize several examples where the combination of human and mouse genetics opened windows into fundamental physiological pathways. A noteworthy example is the melanocortin-4 receptor (MC4R) and its role in energy balance. The pathway was delineated by discovering the gene responsible for the Agouti mutation in mice. With more targeted phenotyping, we predict that additional pathways relevant to human pathophysiology will be discovered.

Investigators with authorship
Name Institution Alan Attie University of Wisconsin-Madison

Complications
All ComplicationsBioinformatics BoneCardiomyopathy CardiovascularGastro-Intestinal (GI) NephropathyNeuropathy & Neurocognition Pediatric Endocrinology Retinopathy UropathyWound Healing