Molecular functions of Ubiad1, a gene product associated to Schnyder Crystalline Corneal Dystrophy

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. Most genetic disorders are quite rare and affect one person in every several thousands or millions. Major diseases that can be treated with gene and cellular therapy, a process based on treating or alleviating diseases by genetically modifying the cells of the affected person, causing the gene to function properly. We are currently working on a genetic disease called the Schnyder Crystalline Corneal Dystrophy (SCCD). SCCD is an autosomal dominant genetic disease characterized by progressive opacification of the cornea resulting from abnormal deposition of cholesterol and phospholipids. The progressive opacification leads to gradual decrease of visual activity and blindness. Additionally, familial hypercholesterolemia and cardiovascular disorders are the most common lipoprotein abnormalities in patients with SCCD. SCCD has been recently associated to heterozygous missense mutations in the human UBIAD1 gene on chromosome 1p36. The function of Ubiad1 protein is however completely unknown. Here we aim to explain the molecular basis of the Schnyder crystalline corneal dystrophy characterizing the molecular, biochemical and cellular functions of UBIAD1, the gene product responsible for this genetic disease to eventually design specific therapies. Our analyses will be carried out in the context of whole organisms models and human primary cell lines. The hope is to provide new hypotheses about disease-gene function, and provide new insights for new therapeutic approaches, like gene and cellular therapy for SCCD patients.