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 with M-like phenotype.

F Kueppers, G Utz, B Simon

    Journal of Medical Genetics
    |June 1, 1977
    PubMed
    Summary

    A rare alpha1-antitrypsin variant, indistinguishable from M-alpha1-antitrypsin in heterozygotes, is linked to severe lung disease. This finding highlights the importance of genetic screening for alpha1-antitrypsin deficiency.

    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

    Prognostic histological and immune markers of renal cell carcinoma.

    Pathology oncology research : POR·2001
    Same author

    Synthesis of ganglioside GD3 and its comparison with bovine GD3 with regard to oligodendrocyte apoptosis mitochondrial damage.

    Chemistry (Weinheim an der Bergstrasse, Germany)·2001
    Same author

    Genetic repeat polymorphism in the regulating region of CYP2E1: frequency and relationship with enzymatic activity in alcoholics.

    Alcoholism, clinical and experimental research·2001
    Same author

    [Prof. Bernd Simon on nonsteroidal anti-inflammatory drugs. Gastrointestinal complications are unpredictable].

    MMW Fortschritte der Medizin·2001
    Same author

    Dynamics of P. falciparum gametocytemia in symptomatic patients in an area of intense perennial transmission in Tanzania.

    The American journal of tropical medicine and hygiene·2001
    Same author

    Epidemiological trends in pancreatic neoplasias.

    Digestive diseases (Basel, Switzerland)·2001

    Area of Science:

    • Pulmonology
    • Clinical Genetics
    • Biochemistry

    Background:

    • Alpha1-antitrypsin deficiency (AATD) is a genetic disorder that increases the risk of lung and liver disease.
    • The most common deficiency allele is Z, but other rare alleles exist.
    • Phenotypic analysis of alpha1-antitrypsin (AAT) is crucial for diagnosing AATD.

    Observation:

    • A patient presented with severe airways obstruction and emphysema, despite an M-like AAT phenotype, and had low serum AAT concentrations (0-1 g/l).
    • Her parents and siblings exhibited the PIM phenotype, with approximately half-normal AAT levels in all but the father.
    • The M-like variant was indistinguishable from M-AAT in heterozygotes.

    Findings:

    • The M-like variant, when co-inherited with the M allele, results in low serum AAT levels and severe pulmonary disease in the proposita.
    • Family members with the PIM phenotype and reduced AAT levels showed varying degrees of lung disease or remained asymptomatic.
    • This case suggests that certain M-like variants can cause AATD and associated lung pathology.

    Implications:

    • Accurate identification of AAT variants is critical for predicting disease risk and guiding genetic counseling.
    • The study underscores the need for comprehensive AAT phenotyping and genotyping, especially in patients with unexplained obstructive lung disease.
    • Further research into rare AAT variants is necessary to fully understand their clinical significance and associated disease spectrum.

    Related Experiment Videos