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Updated: Jan 26, 2026
07:11
Assessing Early Stage Open-Angle Glaucoma in Patients by Isolated-Check Visual Evoked Potential
Published on: May 25, 2020
6.8K
Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis
Bo Gong1,2, Houbin Zhang1, Lulin Huang1
1The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Summary
Mutations in receptor activity-modifying protein 2 (RAMP2) cause primary open-angle glaucoma (POAG). This discovery offers a new therapeutic target for preventing irreversible blindness from POAG.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness globally.
- Known genetic mutations explain only a small fraction of POAG cases, highlighting the need for novel gene discovery.
Purpose of the Study:
- To identify novel genes responsible for POAG.
- To investigate the underlying pathogenesis of POAG.
Main Methods:
- Exome sequencing in a Han Chinese cohort (398 POAG cases, 2010 controls).
- Replication studies using Sanger sequencing.
- Generation of a heterozygous Ramp2 knockout mouse model for functional studies.
Main Results:
- Pathogenic variants in receptor activity-modifying protein 2 (RAMP2) were identified in POAG patients across Han Chinese, German, and Indian populations.
- Six heterozygous RAMP2 variants were found in 16/4763 POAG patients, but none in 10,953 controls.
- Mutant RAMP2 caused cellular aggregation, damaged the AM-RAMP2/CRLR-cAMP pathway, and led to retinal ganglion cell death in mice.
Conclusions:
- Disruption of the RAMP2/CRLR-cAMP axis is a cause of POAG.
- RAMP2 is a potential therapeutic target for POAG.
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