Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

Creative Commons License

Morimoto M., Myung C., Beirnes K., Choi K., Asakura Y., Bokenkamp A., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.11, 2016 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1186/s13023-016-0519-7
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Schimke immuno-osseous dysplasia, SMARCAL1 protein, Focal segmental glomerulosclerosis, Wnt signaling pathway, Notch signaling pathway
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background: Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila.