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 Experiment Videos

Endogenous mutations in human uncoupling protein 3 alter its functional properties.

A M Brown1, J W Dolan, S M Willi

  • 1Department of Medicine, Division of Endocrinology, Medical University of South Carolina, 114 Doughty Street, Charleston, SC, USA.

FEBS Letters
|January 5, 2000
PubMed
Summary

Certain human uncoupling protein 3 (UCP3) mutations impact its function in mitochondria, potentially influencing obesity and metabolic disease susceptibility. Research shows varying effects of UCP3 mutations on cellular energy uncoupling.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Functional characterisation of the human cloned 5-HT7 receptor (long form); antagonist profile of SB-258719.

British journal of pharmacology·1998
Same author

Successful fertilization after superovulation and laparoscopic intrauterine insemination of the brushtail possum, Trichosurus vulpecula, and tammar wallaby, Macropus eugenii.

Journal of reproduction and fertility·1998
Same author

Influence of concomitant disease on patterns of hospitalization in patients with heart failure discharged from Scottish hospitals in 1995.

European heart journal·1998
Same author

Blockade of HERG and Kv1.5 by ketoconazole.

The Journal of pharmacology and experimental therapeutics·1998
Same author

Changes in [Ca2+]0 during anoxia in CNS white matter.

Neuroreport·1998
Same author

A recessive variant of the Romano-Ward long-QT syndrome?

Circulation·1998

Area of Science:

  • Biochemistry
  • Genetics
  • Mitochondrial Biology

Background:

  • Human uncoupling protein 3 (UCP3) is a mitochondrial transmembrane protein.
  • UCP3 plays a role in uncoupling oxidative phosphorylation.
  • UCP3 is investigated as a candidate gene for obesity.

Purpose of the Study:

  • To investigate the functional impact of native human UCP3 mutations.
  • To assess how specific UCP3 mutations affect uncoupling activity and membrane potential.
  • To explore the link between UCP3 mutations and susceptibility to metabolic diseases.

Main Methods:

  • Expression of native human UCP3 mutations in yeast models.
  • Assessing the uncoupling activity of UCP3 variants.
  • Measuring the effect of mutations on mitochondrial membrane potential (deltaphi).

Related Experiment Videos

Main Results:

  • The R70W mutation resulted in a complete loss of UCP3 uncoupling activity.
  • The R143X mutation significantly reduced UCP3 uncoupling activity.
  • Mutations V102I and IVS6+1G > A showed no significant effect on UCP3 uncoupling activity.

Conclusions:

  • Specific mutations in UCP3 can alter its functional capacity.
  • Altered UCP3 function may impact mitochondrial membrane potential.
  • These functional changes suggest a potential role in metabolic disease susceptibility.