Functional genetic variants of the catecholamine-release-inhibitory peptide catestatin in an Indian population: allele-specific effects on metabolic traits

J Biol Chem. 2012 Dec 21;287(52):43840-52. doi: 10.1074/jbc.M112.407916. Epub 2012 Oct 26.

Abstract

Catestatin (CST), a chromogranin A (CHGA)-derived peptide, is a potent inhibitor of catecholamine release from adrenal chromaffin cells and postganglionic sympathetic axons. We re-sequenced the CST region of CHGA in an Indian population (n = 1010) and detected two amino acid substitution variants: G364S and G367V. Synthesized CST variant peptides (viz. CST-Ser-364 and CST-Val-367) were significantly less potent than the wild type peptide (CST-WT) to inhibit nicotine-stimulated catecholamine secretion from PC12 cells. Consistently, the rank-order of blockade of nicotinic acetylcholine receptor (nAChR)-stimulated inward current and intracellular Ca(2+) rise by these peptides in PC12 cells was: CST-WT > CST-Ser-364 > CST-Val-367. Structural analysis by CD spectroscopy coupled with molecular dynamics simulations revealed the following order of α-helical content: CST-WT > CST-Ser-364 > CST-Val-367; docking of CST peptides onto a major human nAChR subtype and molecular dynamics simulations also predicted the above rank order for their binding affinity with nAChR and the extent of occlusion of the receptor pore, providing a mechanistic basis for differential potencies. The G364S polymorphism was in strong linkage disequilibrium with several common CHGA genetic variations. Interestingly, the Ser-364 allele (detected in ∼15% subjects) was strongly associated with profound reduction (up to ∼2.1-fold) in plasma norepinephrine/epinephrine levels consistent with the diminished nAChR desensitization-blocking effect of CST-Ser-364 as compared with CST-WT. Additionally, the Ser-364 allele showed strong associations with elevated levels of plasma triglyceride and glucose levels. In conclusion, a common CHGA variant in an Indian population influences several biochemical parameters relevant to cardiovascular/metabolic disorders.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • Animals
  • Blood Glucose / metabolism
  • Cardiovascular Diseases* / blood
  • Cardiovascular Diseases* / genetics
  • Chromogranin A* / chemistry
  • Chromogranin A* / genetics
  • Chromogranin A* / metabolism
  • Chromogranin A* / pharmacology
  • Circular Dichroism
  • Epinephrine / metabolism
  • Female
  • Humans
  • India
  • Male
  • Metabolic Diseases* / blood
  • Metabolic Diseases* / genetics
  • Molecular Docking Simulation
  • Molecular Dynamics Simulation
  • Nicotine / pharmacology
  • Nicotinic Agonists / pharmacology
  • Norepinephrine / metabolism
  • PC12 Cells
  • Peptide Fragments* / chemistry
  • Peptide Fragments* / genetics
  • Peptide Fragments* / metabolism
  • Peptide Fragments* / pharmacology
  • Protein Structure, Secondary
  • Quantitative Trait Loci*
  • Rats
  • Receptors, Nicotinic / genetics
  • Receptors, Nicotinic / metabolism
  • Triglycerides / blood

Substances

  • Blood Glucose
  • Chromogranin A
  • Nicotinic Agonists
  • Peptide Fragments
  • Receptors, Nicotinic
  • Triglycerides
  • chromogranin A (344-364)
  • Nicotine
  • Norepinephrine
  • Epinephrine