Genetic Disease receptor-hormone

The development of analog-specific forms of nudear/steroid hormone receptors has prompted us to investigate many naturally occurring mutations found in nuclear receptors assodated with genetic disease. Mutations to... 

Vitamin D dependent rickets. Types I and 2. These are rare bone diseases resulting from genetic disorders leading to the inability to make the active vitantin D metabolite, or from receptor defects which do not allow the hormone to act. 

The secondary causes of rickets and osteomalacia that result from vitamin D deficiency are illustrated in Figure 1. For example, in liver disease, serum concentrations of 25(OH)D3 are invariably too low, and in renal disease too little of the hormonal form of vitamin D, l,25(OH)2D3, is produced. Other causes relate to reduced cell receptor responsiveness to the hormone because of genetic mutations and, hence, inappropriate adaptations that normally contribute to conservation of calcium and/or phosphate ions. 

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