La Fibrosi Cistica: comorbidità, geni modificatori e medicina di precisione
Cystic Fibrosis: comorbidities, modifier genes and precision medicine

AUTORI

ABSTRACT

Cystic Fibrosis: comorbidities, modifier genes and precision medicine

Cystic Fibrosis (CF) is a serious genetic disease, autosomal recessive, monogenic, which equally involves males and females mainly of Caucasian populations (1 affected for every 2500 – 3000 newborns). The first symptoms are evident from birth or within 2 years of age with respiratory infections and growth difficulties which are, at first, the most evident signs. The genetic basis of CF has been definitively clarified with the identification of the disease-gene in 1989, and more than 2000 different mutations are known, today, throughout the gene. The clinical characteristics of the disease are very heterogeneous, its phenotyping turns out to be, in fact, multi-organs. Given the great complexity of the phenotypes associated with CF and the presence of many comorbidities, the question whether genetics, and therefore the presence of modifying/modulating genes of the phenotype, could play a role in the manifestation and in the severity of symptoms is of fundamental importance. Several linkage and Genome Wide Association (GWAS) studies have been useful in this context and to date there are a number of evidences of the presence of CF modifier genes. Personalized medicine, a continuously developing field, has allowed the development of numerous therapeutic strategies, also directed towards specific genomic mutations.

BIBLIOGRAFIA