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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.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Mutations01:39

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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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[Alpha-1 antitrypsin deficiency caused by Null mutation].

J Perrin1, I Aimone-Gastin2, M Balduyck3

  • 1Département de pneumologie, CHU de Nancy, 5, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.

Revue Des Maladies Respiratoires
|November 26, 2015
PubMed
Summary
This summary is machine-generated.

Alpha-1 antitrypsin deficiency, a hereditary condition, can present with undetectable protein levels. Genetic sequencing of the SERPINA1 gene is crucial for identifying null variants and assessing COPD risk.

Keywords:
Alpha-1 antitrypsin deficiencyDéficit en alpha-1 antitrypsineGenotypingGénotypageMutation NullNull mutationPI phenotypePhénotype PISERPINA1

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Area of Science:

  • Pulmonology
  • Medical Genetics

Background:

  • Alpha-1 antitrypsin deficiency is an inherited disorder characterized by low serum alpha-1 antitrypsin (AAT) levels (<11μM/L).
  • Null variants result in undetectable circulating AAT levels, necessitating specific diagnostic approaches.

Observation:

  • A 33-year-old patient presented with exertional dyspnea, moderate airflow obstruction, and emphysema on CT scan.
  • Serum AAT levels were critically low, and protein phenotyping showed no detectable bands.
  • Genetic analysis identified homozygous NullQ0ourém allele in the patient, with heterozygous carriers in his family.

Findings:

  • Homozygous NullQ0ourém allele identified in a patient with severe alpha-1 antitrypsin deficiency.
  • Isoelectrofocusing is a key first-line test for atypical AAT deficiency profiles.
  • SERPINA1 gene sequencing is essential for characterizing rare or null AAT variants.

Implications:

  • Patients with null AAT mutations face a significant risk of developing severe chronic obstructive pulmonary disease (COPD).
  • Early diagnosis through genetic testing is vital for managing AAT deficiency and preventing severe respiratory complications.