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Mutations in the SLC34A2 gene are associated with pulmonary alveolar microlithiasis

Huqun1, Shinyu Izumi, Hitoshi Miyazawa

  • 1Departments of Respiratory Medicine, Pathology, and Chest Surgery, Saitama Medical University, Saitama, Japan.

American Journal of Respiratory and Critical Care Medicine
|November 11, 2006
PubMed
Abstract

Insights

Mutations in the SLC34A2 gene cause pulmonary alveolar microlithiasis, a rare genetic disorder. This gene encodes a sodium phosphate cotransporter crucial for lung function.

Area of Science:

  • Genetics
  • Pulmonology
  • Molecular Biology

Background:

  • Pulmonary alveolar microlithiasis is a rare autosomal recessive disorder.
  • Characterized by the formation of microliths within the alveolar spaces of the lungs.

Purpose of the Study:

  • To identify the specific gene responsible for causing pulmonary alveolar microlithiasis.
  • To understand the genetic basis of this rare lung disease.

Main Methods:

  • Genome-wide single-nucleotide polymorphism (SNP) analysis was performed using DNA from affected patients.
  • Candidate gene identification involved analyzing a narrowed genomic region containing potential disease-causing genes.

Main Results:

  • The SLC34A2 gene, encoding a type IIb sodium phosphate cotransporter, was identified as the candidate gene.
  • Mutations in SLC34A2 were found in all investigated patients with pulmonary alveolar microlithiasis.
  • SLC34A2 is specifically expressed in type II alveolar cells, and identified mutations impaired its normal function.

Conclusions:

  • Mutations in the SLC34A2 gene are the cause of pulmonary alveolar microlithiasis.
  • The identified mutations abolish the normal function of the sodium phosphate cotransporter, leading to the disease.

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