Related Experiment Video

Updated: Oct 12, 2026

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity
07:13

Phenotyping Mouse Pulmonary Function In Vivo with the Lung Diffusing Capacity

Published on: January 6, 2015

Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy

E C Klasen, I Biemond, C D Laros

    Clinical Genetics
    |March 1, 1986
    PubMed

    Insights

    Individuals with alpha-1 antitrypsin deficiency (PI ZZ) have a significantly higher risk of lung disease. PI MZ individuals show a negligible excess risk, influenced by other genetic and environmental factors.

    Area of Science:

    • Pulmonary Medicine
    • Genetics
    • Epidemiology

    Background:

    • Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder that can lead to lung disease.
    • The study investigates the prevalence and risk associated with different genotypes of AATD in a specific population.

    Purpose of the Study:

    • To determine the association between alpha-1 antitrypsin (AAT) deficiency genotypes (PI ZZ and PI MZ) and the risk of developing lung disease.
    • To compare the risk in individuals with AATD genotypes to healthy and internal controls.

    Main Methods:

    • Population-based study comparing PI ZZ and PI MZ individuals with controls.
    • Calculation of relative risk for ZZ and MZ genotypes.

    Main Results:

    • A significantly higher number of PI ZZ and PI MZ individuals were identified in the flaccid lung population compared to controls.
    • The relative risk for developing lung disease was 12.5 for PI ZZ and 1.8 for PI MZ individuals.

    Conclusions:

    • The PI ZZ genotype is associated with a substantially increased risk of lung disease.
    • For PI MZ individuals who develop lung disease, the risk attributable to AAT deficiency is minimal and heavily modified by other environmental and genetic factors.

    More Related Videos

    Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis06:33

    Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

    Published on: June 9, 2018

    Oropharyngeal Administration of Bleomycin in the Murine Model of Pulmonary Fibrosis06:03

    Oropharyngeal Administration of Bleomycin in the Murine Model of Pulmonary Fibrosis

    Published on: May 9, 2025

    Related Concept Videos

    Incomplete Dominance01:43

    Incomplete Dominance

    Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
    Lethal Alleles02:41

    Lethal Alleles

    Agouti: A Lethal Allele
    Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
    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...
    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.