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Mol Genet Metab. 2015 Aug;115(4):174-9. doi: 10.1016/j.ymgme.2015.05.004. Epub 2015 May 8.

Gene expression in cell lines from propionic acidemia patients, carrier parents, and controls.

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Genetics and Metabolism, Children's National Health System, Washington DC 20010, United States; Center for Genetic Medicine, George Washington University, Washington DC 20010, United States. Electronic address:
Vanderbilt University, Nashville, TN, United States. Electronic address: william.s.bush@Vanderbilt.Edu.
Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States. Electronic address:


Propionic acidemia (PA) is an inborn of metabolism which usually presents with metabolic acidosis and accumulation of 3-hydroxypropionate among other toxins. Examining the gene expression in lymphoblastoid cell lines (LCLs) from PA patients, their carrier parents and age/sex-matched controls at normal glucose and low glucose growth conditions demonstrated differences among and between these groups. Using three-way ANOVA analysis, four DAVID clusters of response were identified of which three of the four clusters showed that LCLs from carrier parents had an intermediate response between healthy controls and PA patients. These differences included changes in expression of cell cycle regulatory genes, mitochondrial related genes, and transcriptional regulation. In addition, differences also were observed in expression of genes involved in transendothelial migration and focal adhesion at normal growth conditions when comparing the LCLs from PA patients and controls. These studies demonstrate transcriptional differences between LCLs from PA patients, their parents and biochemically normal controls.


Gene expression; Gene transcription; Organic acidemia; Propionic acidemia; Propionic aciduria

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