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 Concept Videos

Chronic Obstructive Pulmonary Disease II: Emphysema01:23

Chronic Obstructive Pulmonary Disease II: Emphysema

Emphysema, a major phenotype of chronic obstructive pulmonary disease (COPD), is characterized by irreversible destruction of alveolar walls and permanent enlargement of distal airspaces. Unlike chronic bronchitis, which primarily affects the airways, emphysema predominantly involves the lung parenchyma, where structural damage leads to airflow limitation.PathophysiologyIt most commonly results from prolonged exposure to cigarette smoke and other toxic gases, particularly cigarette smoke.
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Pancreatitis I: Introduction01:25

Chronic Pancreatitis I: Introduction

Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...

You might also read

Related Articles

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

Sort by
Same author

Microbiome-Targeted Antibiotics Provide No Additional Microbiologic or Inflammatory Benefit during Cystic Fibrosis Pulmonary Exacerbations: Results from the CFMATTERS Trial.

American journal of respiratory and critical care medicine·2026
Same author

From the gut to the lung: microbiota-associated metabolites as regulators of respiratory immunometabolism.

Mucosal immunology·2026
Same author

Contributors to the heterogeneity of response to CFTR modulators.

The Lancet. Respiratory medicine·2026
Same author

Interkingdom signaling elicited by bacterial extracellular vesicles in human cystic fibrosis airway epithelium and neutrophils.

Frontiers in cellular and infection microbiology·2026
Same author

Bronchial epithelial cell-derived extracellular vesicles drive inflammasome activation and <i>NTHi</i> infection in COPD.

Frontiers in immunology·2026
Same author

Neutrophil-derived biomarkers in bronchiectasis: identifying a common therapeutic target.

The European respiratory journal·2025

Related Experiment Video

Updated: Jul 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Alpha-1-antitrypsin deficiency: current concepts.

Alan T Mulgrew1, Clifford C Taggart, N Gerry McElvaney

  • 1Respiratory Division, University of British Columbia, Diamond Health Centre, 2775 Laurel St, Vancouver, BC, Canada, V5Z1M9. alan.mulgrew@vch.ca

Lung
|June 15, 2007
PubMed
Summary

Alpha-1-antitrypsin (A1AT) deficiency causes liver disease and emphysema due to protein misfolding. Emerging research suggests mutant A1AT may also directly harm lung cells, impacting treatment strategies.

More Related Videos

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Experiment Videos

Last Updated: Jul 14, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis
05:56

Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

Published on: August 29, 2025

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Area of Science:

  • Biochemistry
  • Genetics
  • Pulmonology

Background:

  • Alpha-1-antitrypsin (A1AT) deficiency is a genetic disorder characterized by mutations in the A1AT gene.
  • Mutations lead to misfolded A1AT protein accumulation in hepatocytes, causing liver damage (hepatitis, cirrhosis).
  • Reduced circulating A1AT causes protease-antiprotease imbalance, leading to lung emphysema.

Purpose of the Study:

  • To review emerging concepts in A1AT deficiency research.
  • To discuss the dual pathology of A1AT deficiency: liver conformational disease and lung protease-antiprotease imbalance.
  • To explore new findings on mutant A1AT's direct role in lung inflammation and injury.

Main Methods:

  • Literature review of recent research on A1AT deficiency.
  • Analysis of the two-stage disease model (liver accumulation, lung imbalance).
  • Discussion of novel findings regarding mutant A1AT's direct cellular effects.

Main Results:

  • A1AT deficiency presents as a conformational liver disease and a lung protease-antiprotease imbalance.
  • Recent evidence indicates mutant A1AT may be directly proinflammatory and injurious to lung cells.
  • The direct effects of mutant A1AT challenge the traditional understanding of lung damage.

Conclusions:

  • A1AT deficiency involves complex liver and lung pathologies.
  • Emerging concepts highlight the direct, inflammatory role of mutant A1AT in lung injury.
  • New insights may lead to novel therapeutic approaches for A1AT deficiency.