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Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1

Louise Benarroch1, Mélodie Aubart2,3, Marie-Sylvie Gross4

  • 1Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, 46 rue Henri Huchard, 75018 Paris, France. louise.benarroch@inserm.fr.

Genes
|August 24, 2018
PubMed

Insights

Marfan syndrome (MFS) severity is linked to fibrillin-1 (FBN1) mRNA levels. This study identified a genetic locus on chromosome 11 regulating FBN1 expression, with calcium influx impacting FBN1 levels.

Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Research

Background:

  • Marfan syndrome (MFS) is a variable autosomal dominant connective tissue disorder.
  • Fibrillin-1 (FBN1) messenger RNA (mRNA) expression serves as a marker for MFS severity.
  • Identifying regulators of FBN1 expression is crucial for understanding MFS pathogenesis.

Purpose of the Study:

  • To identify trans-acting regulators of FBN1 expression using expression quantitative trait loci (eQTL) analysis.
  • To investigate the role of a specific eQTL locus on chromosome 11 in MFS.
  • To explore the relationship between sarcolipin (SLN) and FBN1 gene expression.

Main Methods:

  • Performed eQTL analysis to locate genetic regulators of FBN1 expression.
  • Investigated the expression of SLN and SNX7-ps1 in skin fibroblasts.
  • Assessed the correlation between SLN, SNX7-ps1, and FBN1 gene expression.
  • Examined the effect of calcium influx on FBN1 gene expression.

Main Results:

  • A genome-wide significant eQTL signal for FBN1 expression was detected on chromosome 11, implicating the SLN gene and SNX7-ps1 pseudogene.
  • SLN gene expression was found to be weak in skin fibroblasts.
  • No direct correlation was observed between SLN and FBN1 gene expression.
  • SLN gene expression was highly correlated with SNX7-ps1 expression.
  • Calcium influx was confirmed to modulate FBN1 gene expression.

Conclusions:

  • The study identified a potential regulatory locus for FBN1 expression on chromosome 11.
  • While calcium influx influences FBN1 expression, the specific roles of sarcolipin and the identified eQTL locus remain undetermined.
  • Further research is needed to elucidate the precise mechanisms linking this eQTL locus to Marfan syndrome severity.
Keywords:
Marfan syndromecalciumfibrillin-1genetic modifierssarcolipinvariability

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