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Related Concept Videos

Obesity01:24

Obesity

The Body Mass Index (BMI) is a numerical value derived from a person's weight and height, used to categorize individuals into weight ranges. It is calculated using the formula: weight in kilograms divided by height in meters squared. Obesity is a health condition characterized by excessive accumulation of adipose tissue that poses health risks, often diagnosed with a BMI ≥ 30. This excess fat storage occurs when surplus dietary calories are converted into triglycerides and stored in adipocytes...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Type II Diabetes I: Introduction01:26

Type II Diabetes I: Introduction

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance, in which target tissues such as the liver, muscle, and adipose tissue respond poorly to insulin. It is also associated with inadequate compensatory insulin secretion, where pancreatic β-cells fail to produce sufficient insulin. Together, these abnormalities lead to persistent hyperglycemia.EtiologyT2DM develops through a complex interaction of genetic predisposition and environmental or...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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Related Experiment Video

Updated: May 11, 2026

Segmentation and Measurement of Fat Volumes in Murine Obesity Models Using X-ray Computed Tomography
13:09

Segmentation and Measurement of Fat Volumes in Murine Obesity Models Using X-ray Computed Tomography

Published on: April 4, 2012

[Monogenic obesity in human].

Kazumichi Onigata1

  • 1Postgraduate Clinical Practice Center, Shimane University Hospital.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|May 2, 2013
PubMed
Summary
This summary is machine-generated.

Genetic mutations in the leptin-melanocortin pathway cause early-onset obesity. Identifying these obesity genes aids in understanding metabolic abnormalities and hereditary obesity syndromes.

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Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis
08:34

Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis

Published on: June 3, 2016

Related Experiment Videos

Last Updated: May 11, 2026

Segmentation and Measurement of Fat Volumes in Murine Obesity Models Using X-ray Computed Tomography
13:09

Segmentation and Measurement of Fat Volumes in Murine Obesity Models Using X-ray Computed Tomography

Published on: April 4, 2012

Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis
08:34

Mechanism of Regulation of Adipocyte Numbers in Adult Organisms Through Differentiation and Apoptosis Homeostasis

Published on: June 3, 2016

Area of Science:

  • Genetics
  • Endocrinology
  • Metabolic Disorders

Context:

  • Obesity is a complex condition influenced by genetic and environmental factors.
  • The leptin discovery illuminated central pathways regulating appetite and body weight.
  • Monogenic obesity in humans is a recognized genetic disorder.

Purpose:

  • To explore the genetic underpinnings of obesity, particularly focusing on the leptin-melanocortin axis.
  • To identify specific gene mutations associated with monogenic and hereditary obesity.
  • To understand the molecular basis of early-onset obesity and associated metabolic issues.

Summary:

  • Mutations in genes such as Leptin, leptin receptor, proopiomelanocortin (POMC), prohormone convertase 1 (PC1), and melanocortin receptor-4 (MC4-R) are linked to monogenic obesity.
  • These genetic defects lead to early-onset obesity and distinct metabolic abnormalities.
  • Gene mutations are also implicated in hereditary syndromes presenting with symptomatic obesity.

Impact:

  • Advances understanding of the genetic architecture of obesity.
  • Provides targets for diagnosing and potentially treating genetic forms of obesity.
  • Highlights the critical role of the leptin-melanocortin pathway in weight regulation.