BAR HARBOR — Research into genetic mutations in mice at the Jackson Laboratory and human patients in the Netherlands shows how helpful mouse models of mutations can be.
A butterfly-shaped pigment accumulation in the macula of the eye, which can lead to severe vision loss in some patients, is due to mutations in the alpha-catenin 1 gene, an international research consortium including a team from The Jackson Laboratory reports in “Nature Genetics.”
The research team led by Anneke I. den Hollander, a professor at Radboud University Medical Center in Nijmegen, The Netherlands, identified the mutations in three families in which the butterfly-shaped pigment dystrophy of the eye is common. While relatively benign, this condition in some cases leads to severely impaired vision.
Independently, Professor Patsy Nishina’s laboratory at The Jackson Laboratory discovered a mouse strain with an analogous mutation in the same gene as identified by den Hollander’s team. Their collaboration revealed that the mouse model exhibits the same symptoms as the human patients, including pigmentary abnormalities, focal thickening, elevated lesions and decreased light-activated responses in the retinal pigment epithelium.
Nishina says, “This research nicely demonstrates the ‘virtuous loop’ between findings in patient data and how a good mouse model equivalent can provide detailed insight into the mechanisms of a disease.”
Other Jackson Laboratory researchers collaborating in the research were Mark P. Krebs, Wanda Hicks, Lanying Shi, Lucy Rowe, Gayle B. Collin and Jeremy R. Charette.
The Jackson Laboratory is an independent, nonprofit biomedical research institution and National Cancer Institute-designated Cancer Center. It employs 1,700 staff, and its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.