Abstracts from the 24th Congress of the Italian Society of Cystic Fibrosis and the 14th National Congress of Cystic Fibrosis Italian Society

2019 Italian Journal of Pediatrics  
Cystic Fibrosis (CF) is caused by a variety of mutations of the CFTR ion channel, with deletion of phenylalanine 508 (F508del) representing approximately 70% of patients. This mutation induces a proteinopathy, characterized by aggregates of mutated and unfolded proteins, hyper-inflammation, impaired trafficking and altered metabolism at cellular level. CFTR dysfunction has primarily a devastating effect on lungs, causing chronic inflammation and recurrent unresolved infections. CF patients
more » ... op severe comorbidities: male infertility, biliary cirrhosis, osteopenia/osteoporosis, renal failure, diabetes (50% of adult patients), malabsorption and increased synthesis of cholesterol and its accumulation in liver but also in other tissues, dyslipidemia with increased plasma triglycerides, pancreas fibrolipomatosis, hepatic lipogenesis and steatosis. Lung chronic inflammation and infection have been extensively associated to the lipotoxin ceramide, core component of membrane lipids. such as sphingomyelins and glycosphingolipids. We previously demonstrated that the sphingolipid synthesis inhibitor Myriocin is able to reduce inflammation and to ameliorate defense response against bacterial and fungal infection.
doi:10.1186/s13052-019-0631-0 fatcat:mdvgmrdjozcbrphhb6rouu37xa