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

16
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.
16
Chronic Obstructive Pulmonary Disease I: Introduction01:23

Chronic Obstructive Pulmonary Disease I: Introduction

19
Chronic obstructive pulmonary disease is a common, preventable, and treatable respiratory disorder characterized by persistent symptoms and progressive airflow limitation. This limitation results from a combination of small-airway disease (obstructive bronchiolitis) and parenchymal destruction (emphysema), both driven by chronic inflammation from exposure to harmful particles or gases.The disease includes two main pathological entities: emphysema, marked by destruction of alveolar walls and...
19
Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

Chronic Obstructive Pulmonary Disease-II: Pathophysiology

4.9K
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
4.9K
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

18
Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
18
Type I Diabetes I: Introduction01:12

Type I Diabetes I: Introduction

8
Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
8
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.0K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.0K

You might also read

Related Articles

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

Sort by
Same author

Alpha-1 Antitrypsin Deficiency Alleles in Non-Cirrhotic Hepatocellular Carcinoma: Insights from a Multicenter French Cohort.

Journal of clinical and experimental hepatology·2026
Same author

Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.

Orphanet journal of rare diseases·2025
Same author

Alpha-1 antitrypsin deficiency and primary liver cancers.

Biochimica et biophysica acta. Reviews on cancer·2025
Same author

Alpha-1 Antitrypsin Inclusions Sequester GRP78 in a Bile Acid-Inducible Manner.

Liver international : official journal of the International Association for the Study of the Liver·2024
Same author

Pediatric and Adult Liver Disease in Alpha-1 Antitrypsin Deficiency.

Seminars in liver disease·2023
Same author

Hepatocyte proteomes reveal the role of protein disulfide isomerase 4 in alpha 1-antitrypsin deficiency.

JHEP reports : innovation in hepatology·2021

Related Experiment Video

Updated: Apr 22, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.2K

[Alpha-1-antitrypsin deficiency].

Marion Bouchecareilh1

  • 1Institut de biochimie et génétique cellulaires, CNRS UMR 5095, université de Bordeaux, 1, rue Camille Saint-Saëns, 33077 Bordeaux, France.

Medecine Sciences : M/S
|October 15, 2014
PubMed
Summary

Alpha-1-antitrypsin (α1AT) deficiency is a genetic disorder causing lung and liver disease. Understanding α1AT biogenesis is key to developing new treatments for this condition.

Area of Science:

  • Genetics and Molecular Biology
  • Hepatology
  • Pulmonology

Context:

  • Alpha-1-antitrypsin (α1AT) deficiency is a significant genetic disorder.
  • It is the leading genetic cause of liver disease in children and adults.
  • Prevalence in Western Europe is approximately 1 in 2,000.

Purpose:

  • To review current knowledge on α1AT deficiency.
  • To highlight recent discoveries in α1AT biology.
  • To explore novel therapeutic strategies and biomarkers for α1AT deficiency.

Summary:

  • The Z variant of α1AT leads to polymer accumulation in hepatocytes, causing cell death and reduced serum α1AT.
  • This reduction impairs antiprotease activity, damaging lung tissue and causing pulmonary emphysema.

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

7.7K
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

2.0K

Related Experiment Videos

Last Updated: Apr 22, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.2K
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

7.7K
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

2.0K
  • Liver cirrhosis is also a common manifestation, particularly in severe deficiency cases.

    • Impact:

    • Limited therapeutic options currently exist for α1AT deficiency.
    • Further understanding of α1AT biogenesis is crucial for identifying new drug targets.
    • Development of novel pharmacological agents and biomarkers is essential for improved patient outcomes.