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Mol Genet Metab. 2012 Mar;105(3):408-15. doi: 10.1016/j.ymgme.2011.12.007. Epub 2011 Dec 16.

Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).

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Department of Medical Biochemistry and Genetics, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland.


Lysinuric protein intolerance (LPI) is an autosomal recessive disorder caused by mutations in cationic amino acid transporter gene SLC7A7. Although all Finnish patients share the same homozygous mutation, their clinical manifestations vary greatly. The symptoms range from failure to thrive, protein aversion, anemia and hyperammonaemia, to immunological abnormalities, nephropathy and pulmonary alveolar proteinosis. To unravel the molecular mechanisms behind those symptoms not explained directly by the primary mutation, gene expression profiles of LPI patients were studied using genome-wide microarray technology. As a result, we discovered 926 differentially-expressed genes, including cationic and neutral amino acid transporters. The functional annotation analysis revealed a significant accumulation of such biological processes as inflammatory response, immune system processes and apoptosis. We conclude that changes in the expression of genes other than SLC7A7 may be linked to the various symptoms of LPI, indicating a complex interplay between amino acid transporters and various cellular processes.

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