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Related Concept Videos

Hypertension I: Introduction01:28

Hypertension I: Introduction

Hypertension is a widespread, long-term medical condition where blood pressure in the arteries remains elevated. It is characterized by systolic blood pressure readings of 130 mm Hg or above or diastolic blood pressure (DBP) readings of 80 mm Hg or higher. Unmanaged hypertension poses significant health risks, making the distinction between primary (or essential) hypertension and secondary hypertension crucial, as their management and implications vary.Primary HypertensionPrimary hypertension,...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Hypertension and Regulation of Blood Pressure01:18

Hypertension and Regulation of Blood Pressure

Hypertension, the most common cardiovascular disease, is diagnosed through repeated measurements of elevated blood pressure. Its risks, including damage to the kidney, heart, and brain, are directly proportional to blood pressure levels. Starting from 115/75 mm Hg, the risk of cardiovascular disease doubles with each increment of 20/10 mm Hg. The diagnosis relies on blood pressure measurements, not on patient symptoms, as hypertension is often asymptomatic until end-organ damage is imminent or...
Hypertension II: Pathophysiology01:29

Hypertension II: Pathophysiology

Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
Alterations in Blood Pressure01:30

Alterations in Blood Pressure

Alterations in blood pressure, such as hypertension (high blood pressure) and hypotension (low blood pressure), significantly affect human health. Understanding these conditions' classifications, causes, and symptoms is essential for effective management and treatment.
Hypertension (High blood pressure)
Hypertension occurs when blood pressure readings consistently exceed the normal range. It is diagnosed when systolic blood pressure (the top number, indicating pressure while the heart beats)...
Blood Pressure01:30

Blood Pressure

Blood pressure (BP) is the pressure or force of blood exerted on the artery's walls as it circulates through the body. It is essential for maintaining blood flow throughout the body.
The average BP in an adult is typically around 120/80 mmHg (millimeters of mercury). In this measurement, the numerator (120) indicates the systolic pressure, which is the pressure in the arteries during the contraction of the heart's ventricles as blood is expelled. The denominator (80) represents the diastolic...

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Related Experiment Videos

Functional BSND variants in essential hypertension.

Saba Sile1, Niloufar B Gillani, Digna R Velez

  • 1Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232-0275, USA. saba.sile@vanderbilt.edu

American Journal of Hypertension
|October 24, 2007
PubMed
Summary
This summary is machine-generated.

A common barttin (BSND) gene variant, BSND-V43I, shows partial loss of function but does not independently protect against hypertension. This variant was common in some populations but absent in Caucasians.

Related Experiment Videos

Area of Science:

  • Genetics
  • Nephrology
  • Physiology

Background:

  • Renal salt reabsorption defects can influence blood pressure regulation and hypertension risk.
  • The thick ascending limb (TAL) relies on the ClC-Kb channel and its accessory subunit, barttin (BSND), for sodium chloride reabsorption.

Purpose of the Study:

  • To investigate genetic variations in the BSND gene.
  • To determine the functional consequences of identified BSND variants.
  • To assess the association between BSND variants and hypertension.

Main Methods:

  • Screening for BSND genetic variations in a diverse population.
  • Genotyping Ghanaian normotensive and hypertensive subjects and four control populations.
  • Utilizing a heterologous expression system to examine functional consequences of BSND variants.

Main Results:

  • Three novel nonsynonymous BSND variants (V43I, E255Q, G284D) were identified.
  • The BSND-V43I variant was present in African American, Asian, and Hispanic subjects, but not Caucasians.
  • BSND-V43I and BSND-G284D exhibited partial loss-of-function phenotypes; BSND-V43I showed no independent association with hypertension but deviated from Hardy-Weinberg equilibrium in normotensive Ghanaians.

Conclusions:

  • The BSND-V43I variant, despite its common occurrence and partial loss of function, does not independently confer protection against hypertension.
  • Significant deviation from Hardy-Weinberg equilibrium was observed for BSND-V43I in the Ghanaian normotensive population, suggesting potential population-specific genetic factors.