The mechanisms of the syndrome of Lowe
The OCRL1 gene mutation changes the intracellular transport in kidney cells by preventing the re-absorption of proteins that are then eliminated in the urine. A clear mechanism that damages the kidneys in Lowe syndrome, a rare genetic disease that affects the eyes and brain to describe in the journal EMBO Journal is the team led by Antonella De Matteis Telethon Institute of Genetics and Medicine (TIGEM ) of Naples.
This rare syndrome is due to alterations of a gene, called OCRL1, which contains the information for an enzyme essential for the intracellular trafficking and transport of substances. Since this gene is located on the X chromosome, males are generally to be affected, while females are carriers. The disease is present at birth with congenital cataracts and severe hypotonia, then glaucoma, mental retardation and motor development, seizures, behavioral problems, kidney problems. Just renal failure is a symptom that puts at risk the lives of patients suffering from this disease, for which there is currently no cure. [...]












