RESUMO
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.
Assuntos
Transtornos Heredodegenerativos do Sistema Nervoso/enzimologia , Transtornos Heredodegenerativos do Sistema Nervoso/genética , Ribonuclease H/genética , Sequência de Aminoácidos , Sequência de Bases , DNA/genética , Encefalite Viral/congênito , Feminino , Humanos , Masculino , Modelos Moleculares , Dados de Sequência Molecular , Mutação , Estrutura Quaternária de Proteína , Subunidades Proteicas , Ribonuclease H/química , Ribonuclease H/metabolismo , SíndromeRESUMO
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disease of the heart muscle that causes ventricular tachyarrhythmias and sudden death in young people and athletes. It results in fibrofatty replacement of the right ventricle, and the subepicardial region of the left ventricle. It is the most common cause of sudden cardiac death in young people after hypertrophic heart disease. Diagnosis can be difficult and at present there is no cure for ARVC. Prevention of sudden death is the most important management strategy. Paediatricians need to be aware of the possibility of ARVC in adolescents and young adults presenting with palpitations, fatigue, syncope or cardiac arrest. The authors present two cases of apparently healthy teenage boys who died suddenly and unexpectedly. Postmortem examination of the myocardium was strongly suggestive of ARVC in both cases.