RESUMO
Copper is a trace metal, essential for many biological processes. Copper is also toxic if in excessive amounts; its homeostatic balance requires a delicate regulation. Several severe hereditary human disorders of copper regulatory mechanisms have been identified; they are related to mutations in gene ATP7A and ATP7B coding for copper-transporting proteins. Those mutations result in copper deficiency for ATP7A (Menkes disease) and copper overload for ATP7B (Wilson disease). Usually, clinical and biochemical phenotypes of these diseases are disparate. This article focuses on the molecular pathogenesis of Wilson and Menkes disease, and discusses how causing mutations are correlated with molecular defects and disease phenotypes.
Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Cobre/metabolismo , Erros Inatos do Metabolismo dos Metais/genética , Adenosina Trifosfatases/metabolismo , Proteínas de Transporte de Cátions/metabolismo , ATPases Transportadoras de Cobre , Degeneração Hepatolenticular/genética , Homeostase , Humanos , Síndrome dos Cabelos Torcidos/genética , MutaçãoRESUMO
A rapid and low cost radioimmunologic procedure for progesterone assay in mare plasma is proposed. Radioimmunoassay is performed directly on 10 microliter of unextracted plasma. Free progesterone is adsorbed on dextran-charcoal, then the aqueous phase is decanted and extracted by 1 ml of scintillation fluid. Counting is performed directly on this two-phase system. Results are comparable to those obtained with radioimmunoassays using extracted plasma.