An analysis of the IGF-I receptor coding sequence in the genome of children with growth disorders

Authors:

• Andrzej Kȩdzia,
• Julia Łucja Durzyńska,
• Bartosz Gabryelczyk,
• Elzbieta Petriczko,
• Anna Goździcka-Józefiak

Abstract

Introduction: Growth disorders in children are multifactor, complex processes with often unknown etiology. The insulin-like growth factor-I (IGF-I) is one of the proteins participating in the transfer of growth signals, which are responsible in certain cases for the etiology of a growth disorder. Aim of the study: The aim of the study was an analysis of the coding sequence of the extracellular and intracellular domains of IGF-IR responsible for ligand binding (IGF-I) and kinase activity in the DNA of children with growth disorders, who have normal or slightly decreased levels of plasma IGF-I. Material and methods: DNA isolated from the peripheral blood of 50 short-statured children was used as study material. DNA fragments of IGF-IR obtained as a result of PCR amplification were analyzed using single stranded conformation polymorphism (SSCP) and sequencing. Results: We did not observe any changes in the IGF-IR sequences, thus it can be excluded as a factor responsible for growth disorders. Conclusions: IGF-I receptor sequence changes are not the cause of growth disorders in the study group of children. To find the cause of growth disorders in the study group other proteins from somatotropic axis and/or signaling pathways should be studied in the future.