02:59am Thursday 12 December 2019

Jackson researchers report new clue to normal retinal vascular development

During normal development, a network of blood vessels grows to supply blood to the developing eye; this network recedes by the time a baby is born. Professor Patsy Nishina, Ph.D., and colleagues at French and U.S. research institutes report in the Journal of Biological Chemistry that mutations in Lama1 (the mouse version of the human gene) disrupt retinal development and can also lead to random blood vessel growth (intravitreal neovascularization) inside the eye.

Dr. Nishina says, “The mutation causes a disruption in the proper formation of the inner limiting membrane of the retina, of which LAMA1 is a necessary component.” She notes that the mice carrying the Lama1 mutation show eye deformities similar to those seen in a rare infant eye condition known as persistent fetal vasculature. In this potentially blinding infant condition, formerly known as persistent hyperplastic primary vitreous, the normal developmental blood vessels fail to go dormant, and their proliferation can severely damage various parts of the eye.

According to Richard Smith, M.D., a Jackson ophthalmologist and a coauthor of the paper, “Development of the retina is highly complex, involving many different factors, any one of which can go wrong. Anything we can learn about which genes control retinal development can offer potential avenues to treat or even prevent eye diseases.”

Dr. Nishina and her collaborators discovered the defective gene thanks to a federally funded program at The Jackson Laboratory to generate new mouse models of neurological and ocular diseases. The program’s screening process identified a mouse, designated nmf223, with eye abnormalities associated with retinal vasculopathy. The mice are now available to the scientific community to pursue additional research.

Drs. Nishina and Smith collaborated with Malia M. Edwards (now at The Johns Hopkins Hospital in Baltimore), Wanda L. Hicks and Juergen K. Naggert of The Jackson Laboratory, as well as researchers at the Université de Strasbourg and Institut Clinique de la Souris in France; and the Cleveland Clinic Foundation, Cleveland VA Medical Center and Cleveland Clinic Lerner College of Medicine of Case Western Reserve University in Ohio.

The Jackson Laboratory is an independent, nonprofit biomedical research institution based in Bar Harbor, Maine, with a facility in Sacramento, Calif. Its mission is to discover the genetic basis for preventing, treating and curing human diseases, and to enable research and education for the global biomedical community. The Laboratory is the world’s source for more than 5,000 strains of genetically defined mice, is home of the mouse genome database and is an international hub for scientific courses, conferences, training and education.


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Edwards et al.: Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. 2010. Journal of Biological Chemistry, http://www.jbc.org/cgi/doi/10.1074/jbc.M109.069575

Contact(s): Joyce Peterson, 207-288-6058

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