4.4 Nuclear Receptors

Nuclear receptors are ligand-activated transcription factors that regulate gene expression. They mediate the effects of steroid hormones, thyroid hormone, retinoids, and vitamin D, producing slow-onset but long-lasting physiological changes.

Structure and Mechanism

Domain Structure

  • N-terminal domain (NTD): Activation function-1 (AF-1), ligand-independent transcriptional activation
  • DNA-binding domain (DBD): Two zinc fingers that recognize hormone response elements (HREs)
  • Hinge region: Flexible linker, nuclear localization signals
  • Ligand-binding domain (LBD): Ligand binding pocket + AF-2 (ligand-dependent activation)
  • C-terminal domain: Variable region

Mechanism of Action

General pathway:

1. Lipophilic ligand crosses cell membrane

2. Binds to nuclear receptor (cytoplasm or nucleus)

3. Conformational change releases corepressors, recruits coactivators

4. Receptor dimerization (homo- or heterodimers)

5. Binding to HREs in DNA (promoter/enhancer regions)

6. Recruitment of transcriptional machinery

7. Altered gene transcription → new protein synthesis (hours to days)

Classification

Type I: Steroid Receptors

Cytoplasmic when unbound, translocate to nucleus upon ligand binding. Homodimerize.

  • • Glucocorticoid receptor (GR)
  • • Mineralocorticoid receptor (MR)
  • • Androgen receptor (AR)
  • • Estrogen receptor (ER α/β)
  • • Progesterone receptor (PR)

Type II: Non-Steroid Receptors

Constitutively nuclear, bound to DNA as heterodimers with RXR (retinoid X receptor).

  • • Thyroid hormone receptor (TR α/β)
  • • Vitamin D receptor (VDR)
  • • Retinoic acid receptor (RAR α/β/γ)
  • • Peroxisome proliferator-activated receptor (PPAR α/γ/δ)
  • • Liver X receptor (LXR)

Therapeutic Agents: Steroid Receptors

Glucocorticoid Receptor Agonists

Drugs: Prednisone, dexamethasone, hydrocortisone, budesonide, fluticasone

Mechanism: GR activation → ↑ anti-inflammatory proteins (lipocortin, IL-10), ↓ pro-inflammatory genes (COX-2, iNOS, cytokines)

Uses: Asthma, COPD, rheumatoid arthritis, IBD, organ transplant, allergic reactions

Adverse effects: Immunosuppression, osteoporosis, hyperglycemia, Cushing syndrome, HPA axis suppression

Estrogen Receptor Modulators

Agonists: Estradiol, ethinyl estradiol (contraception, HRT)

SERMs (Selective ER Modulators): Tamoxifen (ER antagonist in breast, agonist in bone/uterus - breast cancer), raloxifene (agonist in bone, antagonist in breast - osteoporosis)

Pure antagonists: Fulvestrant (metastatic breast cancer)

Androgen Receptor Modulators

Agonists: Testosterone, nandrolone (hypogonadism, anemia)

Antagonists: Flutamide, bicalutamide, enzalutamide (prostate cancer)

5α-reductase inhibitors: Finasteride (blocks testosterone → DHT conversion, BPH/male pattern baldness)

Progesterone Receptor Modulators

Agonists: Progesterone, medroxyprogesterone (contraception, HRT, endometriosis)

Antagonist: Mifepristone (RU-486, medical abortion, Cushing syndrome)

Mineralocorticoid Receptor Antagonists

Drugs: Spironolactone, eplerenone

Uses: Hypertension, heart failure, primary hyperaldosteronism; spironolactone also used in hirsutism/acne (anti-androgen effects)

Therapeutic Agents: Non-Steroid Receptors

Thyroid Hormone Receptor Agonists

Levothyroxine (T4), liothyronine (T3): Hypothyroidism replacement

Mechanism: TR-RXR heterodimer → gene transcription affecting metabolism, development, cardiovascular function

Vitamin D Receptor Agonists

Calcitriol (1,25-dihydroxy vitamin D3), paricalcitol: Vitamin D deficiency, secondary hyperparathyroidism, psoriasis

Mechanism: VDR-RXR → ↑ intestinal Ca²⁺ absorption, bone mineralization, immune modulation

Retinoid Receptor Agonists

All-trans retinoic acid (ATRA): Acute promyelocytic leukemia (APL) - induces differentiation

Isotretinoin, tretinoin: Severe acne, photoaging

Teratogenicity: Absolute contraindication in pregnancy

PPAR Agonists

PPARγ agonists: Thiazolidinediones (pioglitazone) - type 2 diabetes, ↑ insulin sensitivity

PPARα agonists: Fibrates (fenofibrate, gemfibrozil) - hypertriglyceridemia, ↑ fatty acid oxidation

Dual PPARα/γ: Investigational for metabolic syndrome

Pharmacological Considerations

Slow Onset/Offset

Effects delayed (hours to days) due to requirement for gene transcription and protein synthesis. Long duration of action.

Tissue Selectivity

SERMs/SARMs exhibit tissue-specific agonist/antagonist activity based on coregulator expression and receptor conformation

Genomic vs Non-Genomic

Classical genomic effects (hours-days). Some steroids also have rapid non-genomic effects (seconds-minutes) via membrane receptors

Drug Resistance

Cancer cells develop resistance via receptor mutations, altered coregulator expression, or activation of alternative pathways