Assuntos
Caderinas/genética , Surdez/genética , Perda Auditiva Neurossensorial/genética , Judeus/genética , Mutação , Precursores de Proteínas/genética , Retinose Pigmentar/genética , Sequência de Bases , Proteínas Relacionadas a Caderinas , Cromossomos Humanos Par 10/genética , Análise Mutacional de DNA , Feminino , Efeito Fundador , Genes Recessivos , Haplótipos , Heterozigoto , Humanos , Masculino , Linhagem , SíndromeRESUMO
PURPOSE OF REVIEW: Disease states characterized by abnormal cellular function or proliferation frequently reflect aberrant genetic information. By revealing disease-specific DNA mutations, we gain insight into normal physiology, pathophysiology, potential therapeutic targets and are better equipped to evaluate an individual's disease risks. This review examines recent advances in our understanding of the genetic basis of adrenal cortical disease. RECENT FINDINGS: Important advances made in the past year have included identification of KCNJ5 potassium channel mutations in the pathogenesis of both aldosterone-producing adenomas and familial hyperaldosteronism type III; characterization of phosphodiesterase 11A as a modifier of phenotype in Carney complex caused by protein kinase, cAMP-dependent, regulatory subunit, type-I mutations; the finding of 11ß-hydroxysteroid dehydrogenase type I mutations as a novel mechanism for cortisone reductase deficiency; and demonstration of potential mortality benefit in pursuing comprehensive presymptomatic screening for patients with Li-Fraumeni syndrome, including possible reduction in risks associated with adrenocortical carcinoma. SUMMARY: This research review provides a framework for the endocrinologist to maintain an up-to-date understanding of adrenal cortical disease genetics.