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Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

M Andrew Nesbit1, Fadil M Hannan1, Sarah A Howles1

  • 1Academic Endocrine Unit, Nuffield Department of Clinical Medicine (M.A.N., F.M.H., S.A.H., V.N.B., R.A.H., R.V.T.), and Sir William Dunn School of Pathology (N.R.), University of Oxford, and the Oxford Molecular Genetics Laboratory, Churchill Hospital (T.C.) - all in Oxford, United Kingdom; Core Research Facilities, University of Utah, Salt Lake City (M.R.H.); and Indiana University School of Medicine, Indianapolis (H.H.).

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Loss-of-function mutations in GNA11 cause familial hypocalciuric hypercalcemia type 2. Conversely, gain-of-function mutations in GNA11 lead to autosomal dominant hypocalcemia type 2, impacting calcium-sensing receptor signaling.

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Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Familial hypocalciuric hypercalcemia (FHH) is a genetic disorder with three types.
  • Type 1 FHH involves calcium-sensing receptor (CASR) loss-of-function mutations.
  • Type 3 FHH is linked to AP2S1 mutations affecting CASR endocytosis.

Purpose of the Study:

  • To investigate the role of GNA11 mutations in FHH type 2.
  • To determine if GNA11 gain-of-function mutations cause hypocalcemia.

Main Methods:

  • GNA11 mutational analysis in FHH and hypocalcemia patients.
  • In vitro expression studies of GNA11 mutations in HEK293 cells.
  • Assessment of Gα11 protein structure and CASR signaling.

Main Results:

  • Identified GNA11 loss-of-function mutations (Ile200del, Leu135Gln) in FHH type 2 patients.
  • Detected GNA11 gain-of-function mutations (Arg181Gln, Phe341Leu) in autosomal dominant hypocalcemia type 2 patients.
  • Demonstrated that FHH-associated mutations decrease cell sensitivity to calcium, while hypocalcemia-associated mutations increase it.

Conclusions:

  • Gα11 loss-of-function mutations cause familial hypocalciuric hypercalcemia type 2.
  • Gα11 gain-of-function mutations cause autosomal dominant hypocalcemia type 2.
  • These findings elucidate the distinct roles of Gα11 in calcium homeostasis.