期刊
MOLECULAR GENETICS AND METABOLISM
卷 105, 期 3, 页码 408-415出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2011.12.007
关键词
Lysinuric protein intolerance; LPI; SLC7A7; Transcriptome; Expression analysis; Amino acid transport
资金
- Sigrid Juselius Foundation
- Turku University Foundation
- Signe and Ane Gyllenberg Foundation
- Finnish Cultural Foundation
- Finnish Concordia Fund
- European Commission [EUGINDAT LSHM-CT-2003-502852]
- Foundation for Paediatric Research, 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. (C) 2011 Elsevier Inc. All rights reserved.
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