STRuctural severity of Axial Spondyloarthritis – STARS
We have performed an exome sequencing of a family of patients with an aggregation of very severe forms of ankylosing spondylitis. We identified a rare missense variant of the BbSp gene carried by all family members with a severe form of the disease. The corresponding amino acid is highly conserved across mammals, attesting its functional importance. This gene is involved in bone metabolism and we wish to confirm its causal role in the ossifications of AS by i) exome sequencing of 200 patients with a severe form of SA ii) phenotypic study in CT and histology of an animal mouse model carrying the same mutation of the murine BbSp gene; we will look for ossifications of the spine and entheses iii) the use of a cell culture model of chondrocytes and osteoblasts from these mice to understand the functional consequences of this mutation on their maturation and cellular functions.
Project coordination
Corinne Miceli-Richard (Unité d'Immunorégulation)
The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.
Partnership
GLY-CRRET Laboratoire de recherche sur la croissance cellulaire, la réparation et la régénération tissulaires
IP Paris Unité d'Immunorégulation
UP-EA2496 PATHOLOGIES, IMAGERIE ET BIOTHERAPIES ORO-FACIALES
CDR SA CENTRE DE RECHERCHE SAINT-ANTOINE
CEA - CNRGH Centre National de Recherche en Génomique Humaine
Help of the ANR 443,109 euros
Beginning and duration of the scientific project:
September 2021
- 36 Months
