J GlaucomaJuly 201813 citations

Update on Animal Models of Exfoliation Syndrome.

Anderson Michael G, Meyer Kacie J, Hedberg-Buenz Adam, Fingert John H

View on PubMed DOI: 10.1097/IJG.0000000000000911

AI Summary

Researchers reviewed animal models for Exfoliation Syndrome (XFS), finding engineered LOXL1 mice and naturally occurring B6-Lyst mice offer insights into XFS biology and potential drug testing.

Abstract

Animal models are powerful tools for studying diseases that affect the eye, such as exfoliation syndrome (XFS). Two types of animal models have been used to investigate the pathophysiology of XFS and glaucoma. One class of models is engineered to have key features of a disease by alteration of their genome (genotype-driven animal models). LOXL1 is the first gene known to increase the risk for developing XFS in humans. Two transgenic mouse models with altered Loxl1 genes have been generated to study XFS. One strain of mice, Loxl1 deficient mice, also known as Loxl1 knockout mice, have had the Loxl1 gene removed from their genomes. Another strain has been engineered to produce excess amounts of the protein produced by the Loxl1 gene, or Loxl1 overexpression. A second class of animal models includes naturally occurring strains of mice that exhibit key clinical features of a disease. Studies of these phenotype-driven animal models may identify genes that cause disease and may also provide a valuable resource for investigating pathogenesis. One strain of mice, B6-Lyst, has several key features of human XFS, including ocular production of exfoliation-like material, and stereotypical iris abnormalities. Studies of this range of mice and other public mouse genetic resources have provided some important insights into the biology of XFS and may be useful for future studies to test the efficacy of drug therapies.

MeSH Terms

Amino Acid OxidoreductasesAnimalsDisease Models, AnimalExfoliation SyndromeGlaucoma, Open-AngleHumansMiceMice, KnockoutMice, Transgenic

Shields Classification

Ch. 8Molecular Genetics of the Glaucomas

Ch. 15Pseudoexfoliation Syndrome

Key Concepts5

The B6-Lyst strain of mice exhibits key clinical features of human exfoliation syndrome (XFS), including ocular production of exfoliation-like material and stereotypical iris abnormalities.

MechanismBasic ScienceAnimal Model Characterizationn=One strain of mice (B6-Lyst)Ch9Ch15

Studies using the B6-Lyst strain of mice and other public mouse genetic resources have provided important insights into the biology of exfoliation syndrome (XFS) and may be useful for future studies to test the efficacy of drug therapies.

MethodologyBasic ScienceReviewn=Not applicableCh9Ch15

Two transgenic mouse models with altered Loxl1 genes, Loxl1 deficient mice (Loxl1 knockout mice) and mice engineered to produce excess amounts of the protein produced by the Loxl1 gene (Loxl1 overexpression), have been generated to study exfoliation syndrome (XFS).

MethodologyBasic ScienceAnimal Model Developmentn=Two strains of miceCh9Ch15

Loxl1 is the first gene known to increase the risk for developing exfoliation syndrome (XFS) in humans.

MechanismBasic ScienceReviewn=Not applicableCh9Ch15

Studies of phenotype-driven animal models, such as the B6-Lyst mice, may identify genes that cause disease and provide a valuable resource for investigating pathogenesis of exfoliation syndrome (XFS).