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

Mutations contributing to human blood pressure variation

F E Karet1, R P Lifton

  • 1Department of Medicine, Yale University School of Medicine, Boyer Center for Molecular Medicine, New Haven, Connecticut 06510, USA.

Recent Progress in Hormone Research
|January 1, 1997
PubMed
Summary
This summary is machine-generated.

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

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up.

Annals of oncology : official journal of the European Society for Medical Oncology·2018
Same author

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

The British journal of dermatology·2017
Same author

Mutation profiles in early-stage lung squamous cell carcinoma with clinical follow-up and correlation with markers of immune function.

Annals of oncology : official journal of the European Society for Medical Oncology·2017
Same author

Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up.

Annals of oncology : official journal of the European Society for Medical Oncology·2016
Same author

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.

Molecular psychiatry·2014
Same author

Serial exome analysis of disease progression in premalignant gammopathies.

Leukemia·2014

Genetic mutations significantly impact blood pressure regulation, with rare gene variants identified as causes for hypertension and hypotension. Understanding these genetic links offers insights into common hypertension mechanisms.

Area of Science:

  • Genetics and Molecular Biology
  • Physiology
  • Cardiovascular Medicine

Background:

  • The precise causes of hypertension remain largely unknown despite extensive research.
  • Growing evidence indicates a significant genetic component in blood pressure regulation.
  • Identifying genetic factors is crucial for understanding hypertension susceptibility.

Purpose of the Study:

  • To review known genetic mutations affecting blood pressure.
  • To elucidate the role of molecular genetics in blood pressure variation.
  • To explore potential insights into common hypertension mechanisms.

Main Methods:

  • Review of existing physiological, biochemical, and genetic investigations.
  • Analysis of identified gene mutations linked to hypertensive and hypotensive syndromes.

Related Experiment Videos

  • Examination of the common pathway affected by these mutations in kidney salt and water reabsorption.

    • Main Results:

    • Mutations in at least 10 genes have been shown to alter blood pressure.
    • Rare mutations cause Mendelian syndromes like glucocorticoid-remediable aldosteronism, apparent mineralocorticoid excess, Liddle’s syndrome (hypertension), and pseudohypoaldosteronism type 1, Bartter's, Gitelman's syndromes (hypotension).
    • Angiotensinogen gene mutations are also associated with hypertension, all impacting kidney salt and water reabsorption.

    Conclusions:

    • Molecular genetic approaches are vital for understanding blood pressure determinants.
    • Identified mutations affecting kidney salt and water balance provide insight into hypertension.
    • Further genetic research may illuminate the mechanisms underlying common forms of hypertension.