Call for cases with Pulmonary Alveolar Microlithiasis and collaboration with colleagues
Project: Characterisation and role of mutations in the SLC34A2 gene/NaPi-IIb in Pulmonary Alveolar Microlithiasis
Mutations in the SLC34A2 gene, which encodes a sodium phosphate co-transporter (NaPi-IIb), cause defect cell-uptake of phosphate, and leads to formation of calcium-phosphate concretions in the lungs, as seen in Pulmonary alveolar microlithiasis (PAM). PAM is an autosomal recessive disease with less than 600 patients reported worldwide. Although the clinical course varies, the disease is usually slowly progressive. There is no known effective treatment for PAM, with the exception of lung transplantation.
The aims of the project
We aim to investigate the association between new mutations in the SLC34A2 gene in PAM patients and the function and localisation of the mutated transporter. The expression of SLC34A2 in BAL-fluid (alveolar type II cells) and in extra-pulmonary tissue (skin) will be investigated. In addition, we aim to assess the systemic phosphate homeostasis in patients with mutations. Furthermore, we aim to compare the results to the patient’s relatives (with only one mutated SLC34A2 allele) with unrelated healthy control subjects.
"We are seeking patients and collaborating partners to the project."
As part of the project, we are setting up the analysis at our Genetic Department in Aarhus. We would be more than happy to offer the genetic analyses to you as part of research collaboration. We will do this for free; in exchange we will reserve the right to use the results in future scientific publications with the aim of improving the treatment of the patients. The genetic testing of your patient will just require a blood sample.
We would be very delighted if you would be interested in collaboration with us. Please, contact MD, PhD student Åsa Lina M. Jönsson for further details and practical information.
Åsa Lina M. Jönsson, MD, PhD student
Department of Biomedicine, Aarhus University
Bartholins Alle´ 6, 3rd Floor, 8000 Aarhus C, Denmark
Elisabeth Bendstrup. MD, PhD, Associate professor
Department of Respiratory Diseases and Allergology,
Aarhus University Hospital, Aarhus, Denmark