Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

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...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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...
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...
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...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Treating Acquired Hypothalamic Obesity.

The New England journal of medicine·2026
Same author

Whole-population trends in obesity across dimensions of inequality in England, 2019-25: a retrospective, longitudinal cohort study of 54 million adults.

The lancet. Diabetes & endocrinology·2026
Same author

A Hormone Cell Atlas maps the human endocrine system at cellular resolution.

Science (New York, N.Y.)·2026
Same author

Paternal behavior is controlled by preoptic Trpc5 neurons.

bioRxiv : the preprint server for biology·2026
Same author

Cross-species studies implicate the melanocortin 3 receptor more strongly in the control of pubertal development than energy balance.

Molecular metabolism·2025
Same author

Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors.

Circulation. Genomic and precision medicine·2025

Related Experiment Video

Updated: May 8, 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 humans.

I Sadaf Farooqi1, Stephen O'Rahilly

  • 1Departments of Medicine and Clinical Biochemistry, Cambridge University, Addenbrooke's Hospital, Cambridge CB2 2QQ, UK.

Annual Review of Medicine
|January 22, 2005
PubMed
Summary

Recent advances have uncovered the genetic basis of inherited obesity disorders, revealing crucial insights into hypothalamic function and energy balance. These findings offer new avenues for genetic counseling and potential therapies.

Area of Science:

  • Genetics of inherited human diseases
  • Molecular basis of obesity and energy homeostasis
  • Neuroendocrinology of hypothalamic function

Background:

  • Previously, inherited obesity disorders were poorly understood complex developmental conditions.
  • Advances in positional cloning and mouse models have illuminated the molecular underpinnings of these diseases.
  • Understanding these genetic factors is key to unraveling energy balance regulation.

Purpose of the Study:

  • To review the progress in identifying the molecular basis of inherited human obesity disorders.
  • To discuss the role of genetic disruptions in the leptin-melanocortin pathways.
  • To highlight the implications of these discoveries for clinical practice.

Main Methods:

  • Positional cloning to identify disease-associated genes.

More Related Videos

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

Semi-Automated Isolation of the Stromal Vascular Fraction from Murine White Adipose Tissue Using a Tissue Dissociator
06:08

Semi-Automated Isolation of the Stromal Vascular Fraction from Murine White Adipose Tissue Using a Tissue Dissociator

Published on: May 19, 2023

Related Experiment Videos

Last Updated: May 8, 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

Semi-Automated Isolation of the Stromal Vascular Fraction from Murine White Adipose Tissue Using a Tissue Dissociator
06:08

Semi-Automated Isolation of the Stromal Vascular Fraction from Murine White Adipose Tissue Using a Tissue Dissociator

Published on: May 19, 2023

  • Study of natural and artificial mutations in mouse models of energy homeostasis.
  • Analysis of human genetic data to identify disorders linked to specific pathways.

    • Main Results:

    • The molecular basis for complex syndromes like Bardet-Biedl syndrome has been elucidated.
    • Key signaling pathways controlling mammalian energy homeostasis have been identified.
    • An increasing number of human disorders linked to the leptin-melanocortin pathway have been discovered.

    Conclusions:

    • Genetic discoveries have provided significant insights into hypothalamic function and energy balance.
    • The leptin-melanocortin pathway is critical for regulating energy homeostasis in mammals.
    • These findings have practical implications for genetic counseling, prognostication, and therapeutic strategies.