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Related Concept Videos

Glaucoma: Overview01:25

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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Angle-closure glaucoma, or closed-angle glaucoma, is an eye condition where the iris bulges out and blocks the iridocorneal angle, resulting in a buildup of aqueous humor and increased intraocular pressure. Immediate medical attention is necessary due to the sudden onset of symptoms. The treatment for angle-closure glaucoma includes short-term and long-term approaches. Short-term treatment involves using eye drops like pilocarpine to lower intraocular pressure by increasing aqueous humor...
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Open Angle Glaucoma: Treatment01:27

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In open-angle glaucoma, the iridocorneal angle remains open, but the trabecular meshwork becomes stiff, slowing down the outflow of aqueous humor. This causes a buildup of aqueous humor in the anterior chamber, leading to a sudden increase in intraocular pressure. The treatment for open-angle glaucoma focuses on reducing the elevated intraocular pressure by either decreasing the secretion of aqueous humor or increasing its outflow.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Related Experiment Video

Updated: Dec 11, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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EAAT1 variants associated with glaucoma.

Michiko Yanagisawa1, Kazuhiko Namekata2, Tomomi Aida1

  • 1Laboratory of Molecular Neuroscience, Medical Research Institute, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Biochemical and Biophysical Research Communications
|August 22, 2020
PubMed
Summary
This summary is machine-generated.

Rare variants in the EAAT1 gene are linked to glaucoma. Specific loss-of-function mutations in EAAT1 were found more frequently in glaucoma patients, suggesting a role in disease development.

Keywords:
EAAT1ExcitotoxicityGlaucomaGlutamate transporterMissense mutationRetina

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neuroscience

Background:

  • Glaucoma is a leading cause of blindness due to progressive retinal ganglion cell (RGC) loss.
  • Glutamate/aspartate transporter (GLAST) knockout mice exhibit RGC loss and optic nerve damage mirroring glaucoma.
  • EAAT1 is the human homolog of GLAST.

Purpose of the Study:

  • To investigate if rare variants in the EAAT1 gene contribute to glaucoma susceptibility.
  • To identify potential genetic risk factors for glaucoma.

Main Methods:

  • Targeted sequencing of the EAAT1 gene in 440 glaucoma patients and 450 control subjects.
  • Analysis of rare variants, including synonymous and missense mutations.
  • Statistical analysis to determine the association between variants and glaucoma risk.

Main Results:

  • Eight rare EAAT1 variants were identified in 20 glaucoma patients.
  • One variant (rs117295512) showed a significant association with glaucoma risk (OR=10.44, P=0.005).
  • Loss-of-function EAAT1 variants were 5.5 times more prevalent in glaucoma patients (1.1%) than in controls (0.2%).

Conclusions:

  • Rare variants in the EAAT1 gene may contribute to the pathogenesis of glaucoma.
  • Loss-of-function EAAT1 variants are present in a subset of glaucoma patients.
  • EAAT1 warrants further investigation as a potential therapeutic target for glaucoma.