Ubiquitin fusion degradation 1–like gene dysregulation in bicuspid aortic valve

a, CATCH region on chromosome 22 and its important genes, including UFD1L. b, Fluorescence in situ hybridization study of blood with 22q13.3 (LSI/ARSA) and DiGeorge/VCFS probe. All signals were present in metaphase and interphase cells of patient with BAV and showed no microdeletion in CATCH region. Arrows indicate that the loci are present on both chromosomes in metaphase and interphase cells. c, Positive control with 22q11.2 microdeletion. Arrow indicates one chromosome 22 with only one signal of LSI ARSA control probe in metaphase cell. The second signal is missed, indicating deletion of the 22q11.2 (obtained from Center for Human Genetics, University of Bremen, Germany).

Relative UFD1L gene expressions (box plots) in aortic leaflets from patients with BAV (median 787-fold) and in leaflets from patients with TAV (median 10,887-fold). Numbers were calculated with 2^−ΔΔCT method. Significantly higher level of UFD1L gene expression was seen in TAV than in BAV (P = .001).

a, UFD1L gene product levels (box plots) in aortic leaflets from patients with BAV and patients with TAV. b, Levels of UFD1L gene product protein on Western blot (arrow) in aortic leaflets from 3 patients with BAV (lanes 2-4) and from 3 patients with TAV (lanes 5-7), in 1 positive pure control (lane 8), in water (lane 9), and in two protein markers (lanes 1 and 10). c, Measurement of amount of protein analyzed by Western blotting, with β-actin as loading control antibody. Lanes 1 and 8 are positive control, lane 9 is water, and lane 10 is protein marker.