Gene Therapy Aiming to Restore COL4 Protein Not Likely to Succeed, Study in Mice Reports

Targeted gene therapy on cells that line the blood vessels — called endothelial cells — failed to restore production of normal collagen in a mouse model of Alport syndrome, a study reports. The study, “Endothelial Cell-Specific Collagen IV α3 Expression Does not Rescue Alport Syndrome in Col4a3-/-…

Researchers Identify New Gene Mutations Related to Alport Syndrome

Fifteen new mutations and two new deletions have been identified in three genes that encode for type 4 collagen in Alport syndrome patients. These new findings are now added to the already known spectrum of mutations associated with Alport syndrome and may help to improve disease prognosis as a result…