Department of Diabetes & Metabolism, and Institute of Health, Switzerland
Research Article
Metabolic Syndrome Pathogenesis: Evidence from Monogenic Disorders
Author(s): Sabine Steffens*
The discovery of uncommon human metabolic disorders caused by a single
gene defect has not only improved the diagnosis and clinical care of these
patients, but it has also provided important biological insights into the
pathophysiology of the metabolic syndrome, which is becoming more and
more common. Obesity, which is fuelled by calorie excess and decreased
physical activity, is a risk factor for type 2 diabetes and insulin resistance.
However, it can be challenging to separate important events in the metabolic
syndrome's aetiology from compensatory effects and epiphenomena.
The three human monogenic illnesses that cause severe, non-syndromic
obesity, pancreatic beta cell variants of early-onset diabetes, and severe
insulin resistance are described in this article. The primary defect is known
in these patients who have single-gene defects causing thei.. View More»
DOI:
10.35248/2155-6156.1000958
