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Inducement and Evaluation of a Murine Model of Experimental Myopia
Published on: January 22, 2019
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APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans
Andrei V Tkatchenko1, Tatiana V Tkatchenko2, Jeremy A Guggenheim3
1Department of Ophthalmology, Columbia University, New York, New York, United States of America; Department of Pathology and Cell Biology, Columbia University, New York, New York, United States of America.
Plos Genetics
|August 28, 2015
Summary
Researchers identified the gene APLP2 as a key factor in myopia development, explaining previously "missing heritability" in refractive error. Variants in APLP2 influence myopia progression, especially with increased reading time, and impact vision in mice.
Area of Science:
- Genetics
- Ophthalmology
- Developmental Biology
Background:
- Myopia is a prevalent vision disorder with significant heritability, yet most genetic factors remain unidentified.
- Previous research indicated a link between Amyloid Beta Precursor Like Protein 2 (APLP2) expression and myopia in primate models.
Purpose of the Study:
- To investigate the role of APLP2 gene variants in human myopia and refractive error development.
- To elucidate the functional impact of APLP2 on refractive error and visual processing in a mouse model.
Main Methods:
- Association analysis of low-frequency APLP2 variants with refractive error in UK and CREAM cohorts (n=49,575).
- Analysis of gene-environment interactions (reading time, age) on myopia progression.
- Phenotypic characterization of Aplp2 knockout mice, including refractive error, contrast sensitivity, and retinal electrophysiology.
Main Results:
- Low-frequency variants near the 5'-end of APLP2 were significantly associated with refractive error in human cohorts.
- APLP2 variants showed a significant interaction with age and reading time on childhood refractive error trajectories.
- Aplp2 knockout mice developed hyperopia and showed reduced susceptibility to environmentally induced myopia, with altered retinal function.
Conclusions:
- APLP2 is identified as a significant contributor to the
- missing heritability
- of myopia.
- APLP2 plays a conserved role in refractive development across species, highlighting its importance in visual pathway regulation.
