RESUMO

Telomeropathies involve a wide variety of infrequent genetic diseases caused by mutations in the telomerase maintenance mechanism or the DNA damage response (DDR) system. They are considered a family of rare diseases that often share causes, molecular mechanisms and symptoms. Generally, these diseases are not diagnosed until the symptoms are advanced, diminishing the survival time of patients. Although several related syndromes may still be unrecognized this work describes those that are known, highlighting that because they are rare diseases, physicians should be trained in their early diagnosis. The etiology and diagnosis are discussed for each telomeropathy and the treatments when available, along with a new classification of this group of diseases. Ethical and legal issues related to this group of diseases are also considered.

Assuntos

Dano ao DNA , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/terapia , Telomerase/genética , Homeostase do Telômero , Antecipação Genética , Ética Médica , Estudos de Associação Genética , Marcadores Genéticos , Testes Genéticos , Variação Genética , Humanos , Mutação , Fenótipo , Doenças Raras , Telomerase/metabolismo , Telômero/genética , Telômero/metabolismo , Homeostase do Telômero/genética