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Mutant RAMP2 causes primary open-angle glaucoma via the CRLR-cAMP axis.

Author: ChenLijia, ChenYuhong, GongBo, GuoXiaoxin, HuangGuo, HuangLulin, HuangYi, JiangLinxin, KrishnadasSubbaiah Ramasamy, LeiBo, LeungChristopher Kai-Shun, LiDean Yaw, LiXi, LiYuanfeng, LinYing, LuFang, MardinChristian, PangChi-Pui, PasuttoFrancesca, QuChao, ReisAndré, ShawPeter X, ShiYi, ShuaiPing, SunXinghuai, SundaresanPeriasamy, TamPancy Oi-Sin, ThamClement Chee-Yung, WangZiyan, WeisschuhNicole, WuYaqi, YangJialiang, YangJiyun, YangZhenglin, ZhangHoubin, ZhangLin, ZhangShanshan, ZhouTongdan, ZhouYu, ZhuWeiquan, ZhuXianjun

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.
Research Support, Non-U.S. Gov'tResearch funding provided by government agencies outside the United States.

Overview

Disruption of the RAMP2/CRLR-cAMP axis could cause primary open-angle glaucoma (POAG). Six heterozygous RAMP2 pathogenic variants were identified among 16 of 4763 POAG patients, but none were found in 10,953 controls. Mutant RAMP2s aggregated in transfected cells and resulted in damage to the AM-RAMP2/CRLR-cAMP signaling pathway. Ablation of one Ramp2 allele led to cAMP reduction and retinal ganglion cell death in mice.
Paper Details　
Original Abstract of the Article :
PURPOSE: Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide and mutations in known genes can only explain 5-6% of POAG. This study was conducted to identify novel POAG-causing genes and explore the pathogenesis of this disease. METHODS: Exome sequencing was ...See full text at original site
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引用元：
https://pubmed.ncbi.nlm.nih.gov/31000793

データ提供：米国国立医学図書館（NLM）

A Novel Gene Mutation Linked to Primary Open-Angle Glaucoma

Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide. This research investigates the potential role of mutations in the receptor activity-modifying protein 2 (RAMP2) gene in causing POAG. The study employed exome sequencing to identify pathogenic variants in a large cohort of POAG patients and controls. The researchers identified specific RAMP2 mutations in POAG patients that were absent in controls, suggesting a potential link between RAMP2 mutations and the development of POAG.

Unveiling the Genetic Roots of Glaucoma

This study delves into the genetic underpinnings of primary open-angle glaucoma. The researchers' findings suggest that mutations in the RAMP2 gene might play a role in the development of POAG. This research provides valuable insights into the pathogenesis of this debilitating eye condition and could potentially lead to new diagnostic and therapeutic strategies. It's like discovering a hidden oasis in the desert, revealing a new understanding of the factors that contribute to glaucoma.

Hope for Glaucoma Prevention and Treatment

This research offers a potential avenue for preventing and treating primary open-angle glaucoma. The discovery of RAMP2 mutations as a possible cause for POAG opens up new possibilities for early detection, personalized treatment strategies, and potentially gene-based therapies. It's like finding a hidden spring in the desert – this research offers a new source of hope and potential solutions for those living with glaucoma.

Dr. Camel's Conclusion

This research offers a compelling link between mutations in the RAMP2 gene and the development of primary open-angle glaucoma. The researchers' findings provide valuable insights into the pathogenesis of this debilitating eye condition, paving the way for potential new diagnostic and therapeutic approaches. It's like finding a new path through a desert – this research opens up new possibilities for understanding and addressing the challenges of glaucoma.
Date :
  1. Date Completed 2020-03-17
  2. Date Revised 2022-12-07
Further Info :

Pubmed ID

31000793

DOI: Digital Object Identifier

S1098-3600(21)04506-8

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Languages

English

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