Pulmonary alveolar microlithiasis

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Mutations in SLC34A2 Cause Pulmonary Alveolar Microlithiasis and Are Possibly Associated with Testicular Microlithiasis.” (Am J Hum Genet. 2006 Oct;79(4):650-6). Authors are Corut A, Senyagit A, Ugur SA et al, from the Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. Pulmonary alveolar microlithiasis, (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. The authors first identified a PAM locus by homozygosity mapping to 4p15, then identified the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. Testicular microlithiasis (TM) is a disease that is more common than PAM. It is often associated with cancer and infertility. Since the gene identified is also expressed in testis, the authors searched for mutations in subjects with TM. In 2 of the 15 subjects with TM, two rare variants were identified, that are possibly associated with the condition. To access the full abstract of the article, click here.