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 Experiment Videos

Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology.

D A Lomas1, H Parfrey

  • 1Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK. dal16@cam.ac.uk

Thorax
|June 1, 2004
PubMed
Summary

Alpha-1 antitrypsin deficiency stems from mutant protein buildup in liver cells. Research aims to understand the cell

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Classifying the unclassifiable-a Delphi study to reach consensus on the fibrotic nature of diseases.

QJM : monthly journal of the Association of Physicians·2023
Same author

A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.

The pharmacogenomics journal·2015
Same author

Molecular pathogenesis of alpha-1-antitrypsin deficiency.

Revue des maladies respiratoires·2014
Same author

The endoplasmic reticulum stress marker CHOP predicts survival in malignant mesothelioma.

British journal of cancer·2013
Same author

The effects of weekly augmentation therapy in patients with PiZZ α1-antitrypsin deficiency.

International journal of chronic obstructive pulmonary disease·2012
Same author

Idiopathic pulmonary fibrosis in a Christmas Island nuclear test veteran.

BMJ case reports·2012

Area of Science:

  • Hepatology
  • Molecular Biology
  • Genetic Disorders

Background:

  • Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder.
  • Mutant AAT protein aggregates within the endoplasmic reticulum of hepatocytes.
  • This intracellular accumulation underlies the disease pathology.

Purpose of the Study:

  • To review the molecular basis of AATD.
  • To elucidate the cellular response to aggregated AAT protein.
  • To identify therapeutic targets for blocking AAT polymerization.

Main Methods:

  • Literature review of molecular mechanisms in AATD.
  • Analysis of cellular responses to endoplasmic reticulum stress.
  • Exploration of in vivo polymerization inhibition strategies.

Main Results:

  • AATD results from ordered polymer formation of mutant AAT in hepatocytes.
  • The endoplasmic reticulum is the primary site of toxic polymer accumulation.
  • Understanding cellular responses is key to developing treatments.

Conclusions:

  • The molecular pathology of AATD involves intracellular protein polymerization.
  • Further research is needed to target AAT polymerization therapeutically.
  • Developing strategies to block polymerization in vivo is a critical goal.

Related Experiment Videos