MAK

The male germ cell-associated kinase (MAK) gene is responsible for about one third of cases of autosomal recessive (definition: An inheritance pattern where a person needs an altered copy of a gene from both parents to be affected. Parents with only one copy are usually unaffected carriers.) retinitis pigmentosa (RP) in people of Jewish ancestry. MAK is a protein that regulates the length of primary cilia in many cell types. Mutations in the MAK gene cause a relatively mild form of RP that primarily affects the light-sensing cells in the retina. Although there is no current cure for RP, medications may help treat complications. Gene therapy (definition: A treatment that delivers a working copy of a gene into cells to take over for a copy that isn't functioning properly.) approaches may also be able to slow or prevent vision loss. For example, researchers at the University of Iowa Institute for Vision Research (IVR) have developed viral vectors that can deliver the MAK gene to photoreceptor (definition: A light-sensing cell in the retina. Rods (used for night and peripheral vision) and cones (used for color and detail) are the two types.) cells. RP symptoms include l oss of side vision (tunnel vision) and d ecreased vision in low light or at night. The severity of RP can vary considerably, even among family members. Some people with RP may go blind by age 30, while others may retain useful vision into their 80s or later.