GNAI2 and regulators of G protein signaling as a potential Noonan syndrome mechanism

Med Hypotheses. 2009 Jul;73(1):56-9. doi: 10.1016/j.mehy.2009.01.040. Epub 2009 Mar 17.

Abstract

Noonan syndrome (NS OMIM 163950) is a relatively common autosomal dominant developmental disorder characterized by short stature, specific facial features, and congenital cardiac anomalies. Approximately 50-66% of cases have defined mutations in the K-ras/Raf/MEK/ERK pathway that lead to constitutive signaling, but a significant number remain unexplained. We hypothesize that enhanced signaling through Galpha(i2) (from the GNAI2 gene) may also produce a NS-like phenotype. This is based on a recently described mouse model in which RGS-mediated inhibition of Galpha(i2) is prevented by a knock-in mutation (G184S) that blocks RGS binding [Huang et al., Mol. Cell. Biol. 2006;26:6870-9]. The mice have short body length, cardiac hypertrophy, a triangular face with wide-set eyes and ears, and hematologic alterations. There is a slight increase in ERK activation and a pronounced enhancement of PI3K/Akt phosphorylation in MEFs from these mice suggesting that abnormal increases in Galpha(i2) signaling could represent a novel upstream mechanism for NS. This suggests a novel set of candidate genes for NS (GNAI2 and RGS proteins) and if validated could have important implications for therapy as well.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • GTP-Binding Protein alpha Subunit, Gi2 / metabolism*
  • GTP-Binding Proteins / metabolism*
  • Humans
  • Mice
  • Models, Biological*
  • Noonan Syndrome / metabolism*
  • Signal Transduction*

Substances

  • GTP-Binding Proteins
  • GNAI2 protein, human
  • GTP-Binding Protein alpha Subunit, Gi2