Reference Expression Profile of Three Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome.

Genes (Basel) 2019 02 11;10(2). Epub 2019 Feb 11.

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France.

Marfan syndrome (MFS) is a rare connective tissue disorder mainly due to mutations in the gene. Great phenotypic variability is notable for age of onset, the presence and absence, and the number and the severity of the symptoms. Our team showed that gene expression level was a good surrogate endpoint for severity of some MFS clinical features. Eight alternative transcripts are referenced for the gene. We hypothesized that MFS clinical variability could be related to specific isoforms. Isoform expression profiles were investigated in skin and adventitial fibroblasts from controls and MFS patients. The results of the study showed that, in skin and adventitial fibroblasts, only three isoforms were found: , , and . The main isoform was and it was significantly reduced in skin and adventitial fibroblasts of MFS patients. The expressions of and isoforms were similar between controls and MFS patients. However, the expression of the three isoforms was correlated only in patients. Furthermore, their expression levels were associated with the presence of ectopia lentis in MFS patients. Therefore, our results highlight that the two minor alternatively spliced isoforms play a possible role in the pathogenesis of the disease.

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http://dx.doi.org/10.3390/genes10020128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6409622PMC
February 2019
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