Related Experiment Video

Updated: Aug 17, 2026

A Human Ex Vivo Atherosclerotic Plaque Model to Study Lesion Biology
05:51

A Human Ex Vivo Atherosclerotic Plaque Model to Study Lesion Biology

Published on: May 6, 2014

Plasma platelet-activating factor acetylhydrolase deficiency is associated with atherosclerotic occlusive disease in

N Unno1, T Nakamura, H Kaneko

  • 1Department of Surgery II, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Journal of Vascular Surgery
|August 5, 2000
PubMed

Insights

A specific gene mutation in plasma platelet-activating factor acetylhydrolase (PAF-AH) is linked to increased risk of atherosclerotic occlusive disease (AO) in Japanese patients. This finding may inform future genetic risk assessments for cardiovascular conditions.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Biochemistry

Background:

  • Plasma platelet-activating factor acetylhydrolase (PAF-AH) inactivates inflammatory platelet-activating factor.
  • A specific missense mutation (G(994)-->T) in exon 9 of the PAF-AH gene causes enzyme deficiency.
  • The role of this mutation in atherosclerotic occlusive disease (AO) risk is unclear.

Purpose of the Study:

  • To investigate the association between the PAF-AH gene mutation and the risk of AO in Japanese patients.
  • To determine if the mutation influences risk factors for cardiovascular events.

Main Methods:

  • A case-control study involving 104 Japanese patients with AO and 114 age- and sex-matched controls.
  • Genotyping for the G(994)-->T missense mutation in the PAF-AH gene.
  • Measurement of plasma PAF-AH activity in study participants.

Main Results:

  • The mutant PAF-AH genotype (GT + TT) was significantly more prevalent in AO patients (36.5%) compared to controls (23.7%).
  • Patients with the mutant allele exhibited a higher incidence of prior stroke or ischemic heart disease.
  • Plasma PAF-AH activity was elevated in AO patients with normal genotypes compared to controls.

Conclusions:

  • The missense mutation (G(994)-->T) in exon 9 of the plasma PAF-AH gene is associated with an increased risk of atherosclerotic occlusive disease in Japanese individuals.
  • This genetic variation may contribute to the pathogenesis of AO and related cardiovascular conditions.
Abstract

More Related Videos

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation04:37

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Published on: May 23, 2025

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well08:01

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

Published on: February 27, 2026

Related Concept Videos

Formation of the Platelet Plug01:22

Formation of the Platelet Plug

The platelet phase, the second stage of hemostasis, commences around 15-20 seconds after an injury. It follows and overlaps with the vascular phase, during which blood vessels constrict to minimize blood loss.
As the injured blood vessel contracts, endothelial cells undergo contraction, revealing collagen fibers in the basement membrane and underlying connective tissue. Furthermore, the plasma membrane of endothelial cells becomes adhesive, preparing the site for platelet adhesion. Platelets...
Clot Retraction and Fibrinolysis01:16

Clot Retraction and Fibrinolysis

After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
Atherosclerosis I: Introduction01:30

Atherosclerosis I: Introduction

Atherosclerosis is a progressive disorder characterized by the buildup of plaques on the arterial inner wall, causing them to narrow and harden over time. These plaques comprise lipids, calcium, blood components, carbohydrates, and fibrous tissue. The process primarily affects the intima of large and medium-sized arteries, reducing blood flow in any artery.Etiology and risk factorsThe cause of atherosclerosis is multifactorial, involving a complex interplay among endothelial injury, lipid...
Peripheral Artery Disease I: Introduction01:30

Peripheral Artery Disease I: Introduction

Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
Peripheral Artery Disease III: Interprofessional Care01:27

Peripheral Artery Disease III: Interprofessional Care

Peripheral Artery Disease (PAD) is characterized by narrowed arteries that diminish blood flow to the extremities. Effective management of PAD requires an interprofessional approach involving various healthcare professionals. The critical aspects of interprofessional care for PAD patients focus on risk factor modification, drug therapy, exercise therapy, nutrition therapy, critical limb ischemia care, and interventional radiology and surgical procedures.The primary treatment goal for PAD...