A1 Journal article – refereed
Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)




List of Authors: Tringham M, Kurko J, Tanner L, Tuikkala J, Nevalainen OS, Niinikoski H, Nanto-Salonen K, Hietala M, Simell O, Mykkanen J
Publisher: ACADEMIC PRESS INC ELSEVIER SCIENCE
Publication year: 2012
Journal: Molecular Genetics and Metabolism
Journal name in source: MOLECULAR GENETICS AND METABOLISM
Journal acronym: MOL GENET METAB
Number in series: 3
Volume number: 105
Issue number: 3
ISSN: 1096-7192

Abstract


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. (C) 2011 Elsevier Inc. All rights reserved.



Last updated on 2019-20-07 at 12:19