Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function

Guran T., Guran O., Paketci C., Kipoglu O., Firat I., DEMİRCİOĞLU S., ...More

PITUITARY, vol.18, no.4, pp.456-460, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.1007/s11102-014-0594-5
  • Journal Name: PITUITARY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.456-460
  • Keywords: LIFR, Stuve-Wiedemann, Hypothalamo-pituitary-adrenal, JAK-STAT
  • Dokuz Eylül University Affiliated: No

Abstract

Stuve-Wiedemann syndrome (STWS) (MIM #601559) is a rare autosomal recessive disorder caused by mutations in the leukemia inhibitory factor receptor (LIFR) gene. STWS has a diverse range of clinical features involving hematopoietic, skeletal, neuronal and immune systems. STWS manifests a high mortality due to increased risk of sudden death. Heterodimerization of the LIFR mediates leukemia inhibitory factor (LIF) signalling through the intracellular Janus kinase (JAK)/STAT3 signalling cascade. The LIF/LIFR system is highly expressed in and regulates the hypothalamo-pituitary-adrenal (HPA) axis.