Related Experiment Video

Updated: Oct 4, 2025

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.5K

Dominant role of CACNA1D exon mutations for blood pressure regulation

Huan Wang1, Jing-Kang Zhu1,2, Lan Cheng1

  • 1Shengli Clinical Medical College of Fujian Medical University, Fuzhou.

Journal of Hypertension
|February 10, 2022
PubMed

Insights

CACNA1D gene mutations, particularly p.D307G, elevate blood pressure and cause organ remodeling in rats. These CACNA1D mutation rats may serve as a novel hypertension model for further research.

Area of Science:

  • Cardiovascular Biology
  • Genetics
  • Hypertension Research

Background:

  • The CACNA1D gene encodes the Cav1.3 L-type calcium channel, crucial for intracellular calcium regulation.
  • Clinical studies link CACNA1D gene polymorphisms to hypertension development.

Purpose of the Study:

  • To investigate the impact of CACNA1D exon mutations on blood pressure in Sprague-Dawley rats.
  • To establish a rat model for studying CACNA1D-associated hypertension.

Main Methods:

  • CRISPR-Cas9 technology was used to create rats with specific CACNA1D mutations (p.D307G, p.V936I, p.R1516Q).
  • Systolic blood pressure was monitored for 32 weeks; tissue morphology and serum vasoactive substances were analyzed.
  • Effects of isradipine and BQ-123 on double mutation rats were assessed; gene expression in HUVECs and VSMCs was examined.

Main Results:

  • The p.D307G mutation led to elevated systolic blood pressure, increased endothelin-1 (ET-1), and vascular, cardiac, and renal remodeling.
  • Increased Cav1.3 protein expression and calcineurin activity were observed in VSMCs, alongside enhanced vascular tension.
  • Double heterozygosity exacerbated hypertension; both isradipine and BQ-123 effectively reduced blood pressure in double mutation rats.

Conclusions:

  • The CACNA1D gene plays a critical role in blood pressure regulation.
  • CACNA1D mutation rats represent a potential new animal model for studying hypertension.
Abstract

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.8K
Two-photon Imaging of Intracellular Ca2+ Handling and Nitric Oxide Production in Endothelial and Smooth Muscle Cells of an Isolated Rat Aorta08:08

Two-photon Imaging of Intracellular Ca2+ Handling and Nitric Oxide Production in Endothelial and Smooth Muscle Cells of an Isolated Rat Aorta

Published on: June 10, 2015

11.4K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
78
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...
3.2K
Antihypertensive Drugs: Action of Calcium Channel Blockers01:18

Antihypertensive Drugs: Action of Calcium Channel Blockers

Calcium ions are essential to contract smooth muscle cells in blood vessels. They enter these cells through voltage-dependent calcium channels, specifically L-type calcium channels in the cell membrane. These L-type calcium channels are integral to the excitation-contraction coupling process in smooth muscle. When a stimulus is received by smooth muscle cells, their membrane depolarizes. This alteration in membrane potential instigates the opening of L-type calcium channels. As a result,...
894
Genetic Lingo01:11

Genetic Lingo

Overview
106.1K
Neural Regulation of Blood Pressure01:18

Neural Regulation of Blood Pressure

The neural regulation of blood pressure involves intricate interactions between the autonomic nervous system (ANS) and cardiovascular system, ensuring adequate perfusion of tissues. This regulation primarily occurs through baroreceptor and chemoreceptor reflexes, involving both short-term and long-term mechanisms.
Baroreceptor Reflex
Baroreceptors, located in the carotid sinuses and aortic arch, detect changes in blood pressure. When blood pressure rises, these stretch-sensitive receptors...
4.3K
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,...
130