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

Mutations01:39

Mutations

Overview
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

You might also read

Related Articles

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

Sort by
Same author

Insulinoma induces a hyperinsulinemia-mediated decrease of GLUT2 and GLP1 receptor in normal pancreatic β-cells.

Biochemical and biophysical research communications·2020
Same author

In tube immunocytochemistry for fluorescence-activated cell sorting that prevents RNA degradation in sorted cells.

Biotechnic & histochemistry : official publication of the Biological Stain Commission·2019
Same author

Preference in time of insulin injection in type 2 diabetic patients treated with once-daily long-acting insulin analog.

Diabetes, obesity & metabolism·2016
Same author

Predominance of β-cell neogenesis rather than replication in humans with an impaired glucose tolerance and newly diagnosed diabetes.

The Journal of clinical endocrinology and metabolism·2013
Same author

Transforming growth factor β1 T868C gene polymorphism is associated with cerebral infarction in Japanese patients with type 2 diabetes.

Diabetes research and clinical practice·2011
Same author

N-linked glycosylation of mouse adiponectin.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme·2011
Same journal

Lipotoxicity: the obese and endurance-trained paradox.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
Same journal

Ectopic fat storage in heart, blood vessels and kidneys in the pathogenesis of cardiovascular diseases.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
Same journal

Fat storage in pancreas and in insulin-sensitive tissues in pathogenesis of type 2 diabetes.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
Same journal

Role of glucocorticoids in the physiopathology of excessive fat deposition and insulin resistance.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
Same journal

Role of energy charge and AMP-activated protein kinase in adipocytes in the control of body fat stores.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
Same journal

Concept of fat balance in human obesity revisited with particular reference to de novo lipogenesis.

International journal of obesity and related metabolic disorders : journal of the International Association for the Study of Obesity·2004
See all related articles

Related Experiment Video

Updated: Jun 22, 2026

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

Genomic structure and mutations in adipose-specific gene, adiponectin.

M Takahashi1, Y Arita, K Yamagata

  • 1Department of Internal Medicine and Molecular Science, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity
|August 5, 2000
PubMed
Summary
This summary is machine-generated.

Genetic variations in the adiponectin gene were studied in Japanese adults. A missense mutation (R112C) was linked to significantly low adiponectin levels, while a common polymorphism showed no association with obesity or adiponectin levels.

More Related Videos

An Adipocyte Cell Culture Model to Study the Impact of Protein and Micro-RNA Modulation on Adipocyte Function
09:20

An Adipocyte Cell Culture Model to Study the Impact of Protein and Micro-RNA Modulation on Adipocyte Function

Published on: May 4, 2021

Adipocyte-Specific ATAC-Seq with Adipose Tissues Using Fluorescence-Activated Nucleus Sorting
11:11

Adipocyte-Specific ATAC-Seq with Adipose Tissues Using Fluorescence-Activated Nucleus Sorting

Published on: March 17, 2023

Related Experiment Videos

Last Updated: Jun 22, 2026

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

An Adipocyte Cell Culture Model to Study the Impact of Protein and Micro-RNA Modulation on Adipocyte Function
09:20

An Adipocyte Cell Culture Model to Study the Impact of Protein and Micro-RNA Modulation on Adipocyte Function

Published on: May 4, 2021

Adipocyte-Specific ATAC-Seq with Adipose Tissues Using Fluorescence-Activated Nucleus Sorting
11:11

Adipocyte-Specific ATAC-Seq with Adipose Tissues Using Fluorescence-Activated Nucleus Sorting

Published on: March 17, 2023

Area of Science:

  • Genetics
  • Metabolic Research
  • Human Physiology

Background:

  • Adiponectin is a key adipose-specific protein influencing metabolic health.
  • Plasma adiponectin levels are often reduced in individuals with obesity.
  • Understanding genetic influences on adiponectin is crucial for metabolic disease research.

Purpose of the Study:

  • To investigate the impact of genetic variations in the adiponectin gene on plasma adiponectin concentrations.
  • To determine the association between adiponectin gene variations and obesity in a Japanese population.

Main Methods:

  • Screening of the human adiponectin gene for mutations using direct sequencing and restriction-fragment polymorphism.
  • Quantification of plasma adiponectin levels via enzyme-linked immunosorbent assay (ELISA).
  • Analysis of genetic data from 219 unrelated Japanese adults, including obese and non-obese individuals.

Main Results:

  • Two nucleotide changes were identified: a G/T polymorphism in exon 2 and an R112C missense mutation in exon 3.
  • The G/T polymorphism in exon 2 did not show a statistically significant association with plasma adiponectin levels or obesity.
  • A single subject with the R112C missense mutation exhibited markedly reduced plasma adiponectin concentration.

Conclusions:

  • The identified G/T polymorphism in the adiponectin gene is not significantly associated with plasma adiponectin levels or obesity.
  • The R112C missense mutation in the adiponectin gene is strongly linked to significantly low plasma adiponectin concentrations.
  • These findings highlight the role of specific adiponectin gene mutations in regulating adiponectin levels.