Genetic and molecular mechanisms of hydrocephalus

Hydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 years, the diagnosis and treatment of hydrocephalus have remained understudied and underreported, and little progress...

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Main Authors: Xuehai Deng, Yiqian Chen, Qiyue Duan, Jianlin Ding, Zhong Wang, Junchi Wang, Xinlong Chen, Liangxue Zhou, Long Zhao
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Molecular Neuroscience
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Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2024.1512455/full
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author Xuehai Deng
Xuehai Deng
Yiqian Chen
Yiqian Chen
Qiyue Duan
Qiyue Duan
Jianlin Ding
Jianlin Ding
Zhong Wang
Zhong Wang
Junchi Wang
Xinlong Chen
Liangxue Zhou
Long Zhao
author_facet Xuehai Deng
Xuehai Deng
Yiqian Chen
Yiqian Chen
Qiyue Duan
Qiyue Duan
Jianlin Ding
Jianlin Ding
Zhong Wang
Zhong Wang
Junchi Wang
Xinlong Chen
Liangxue Zhou
Long Zhao
author_sort Xuehai Deng
collection DOAJ
description Hydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 years, the diagnosis and treatment of hydrocephalus have remained understudied and underreported, and little progress has been made with respect to prevention or treatment. Further research on the pathogenesis of hydrocephalus is essential for developing new diagnostic, preventive, and therapeutic strategies. Various genetic and molecular abnormalities contribute to the mechanisms of hydrocephalus, including gene deletions or mutations, the activation of cellular inflammatory signaling pathways, alterations in water channel proteins, and disruptions in iron metabolism. Several studies have demonstrated that modulating the expression of key proteins, including TGF-β, VEGF, Wnt, AQP, NF-κB, and NKCC, can significantly influence the onset and progression of hydrocephalus. This review summarizes and discusses key mechanisms that may be involved in the pathogenesis of hydrocephalus at both the genetic and molecular levels. While obstructive hydrocephalus can often be addressed by removing the obstruction, most cases require treatment strategies that involve merely slowing disease progression by correcting CSF circulation patterns. There have been few new research breakthroughs in the prevention and treatment of hydrocephalus.
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spelling doaj-art-631662c295d94f30a4a83f480ef0f7fa2025-01-07T06:40:56ZengFrontiers Media S.A.Frontiers in Molecular Neuroscience1662-50992025-01-011710.3389/fnmol.2024.15124551512455Genetic and molecular mechanisms of hydrocephalusXuehai Deng0Xuehai Deng1Yiqian Chen2Yiqian Chen3Qiyue Duan4Qiyue Duan5Jianlin Ding6Jianlin Ding7Zhong Wang8Zhong Wang9Junchi Wang10Xinlong Chen11Liangxue Zhou12Long Zhao13Department of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaSchool of Clinical Medicine, North Sichuan Medical College, Nanchong, ChinaDepartment of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaSchool of Clinical Medicine, North Sichuan Medical College, Nanchong, ChinaDepartment of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaSchool of Clinical Medicine, North Sichuan Medical College, Nanchong, ChinaDepartment of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaSchool of Clinical Medicine, North Sichuan Medical College, Nanchong, ChinaDepartment of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaSchool of Clinical Medicine, North Sichuan Medical College, Nanchong, ChinaSchool of Dentistry, North Sichuan Medical College, Nanchong, ChinaDepartment of Neurosurgery, the First Affiliated Hospital of Chongqing Medical University, Chongqing, ChinaDepartment of Neurosurgery, West China Hospital, Sichuan University, Chengdu, ChinaDepartment of Neurosurgery, Affiliated Hospital of North Sichuan Medical College, Nanchong, ChinaHydrocephalus is a neurological condition caused by aberrant circulation and/or obstructed cerebrospinal fluid (CSF) flow after cerebral ventricle abnormal dilatation. In the past 50 years, the diagnosis and treatment of hydrocephalus have remained understudied and underreported, and little progress has been made with respect to prevention or treatment. Further research on the pathogenesis of hydrocephalus is essential for developing new diagnostic, preventive, and therapeutic strategies. Various genetic and molecular abnormalities contribute to the mechanisms of hydrocephalus, including gene deletions or mutations, the activation of cellular inflammatory signaling pathways, alterations in water channel proteins, and disruptions in iron metabolism. Several studies have demonstrated that modulating the expression of key proteins, including TGF-β, VEGF, Wnt, AQP, NF-κB, and NKCC, can significantly influence the onset and progression of hydrocephalus. This review summarizes and discusses key mechanisms that may be involved in the pathogenesis of hydrocephalus at both the genetic and molecular levels. While obstructive hydrocephalus can often be addressed by removing the obstruction, most cases require treatment strategies that involve merely slowing disease progression by correcting CSF circulation patterns. There have been few new research breakthroughs in the prevention and treatment of hydrocephalus.https://www.frontiersin.org/articles/10.3389/fnmol.2024.1512455/fullhydrocephalusgenetic abnormalityanimal modelmolecular changescerebrospinal fluid
spellingShingle Xuehai Deng
Xuehai Deng
Yiqian Chen
Yiqian Chen
Qiyue Duan
Qiyue Duan
Jianlin Ding
Jianlin Ding
Zhong Wang
Zhong Wang
Junchi Wang
Xinlong Chen
Liangxue Zhou
Long Zhao
Genetic and molecular mechanisms of hydrocephalus
Frontiers in Molecular Neuroscience
hydrocephalus
genetic abnormality
animal model
molecular changes
cerebrospinal fluid
title Genetic and molecular mechanisms of hydrocephalus
title_full Genetic and molecular mechanisms of hydrocephalus
title_fullStr Genetic and molecular mechanisms of hydrocephalus
title_full_unstemmed Genetic and molecular mechanisms of hydrocephalus
title_short Genetic and molecular mechanisms of hydrocephalus
title_sort genetic and molecular mechanisms of hydrocephalus
topic hydrocephalus
genetic abnormality
animal model
molecular changes
cerebrospinal fluid
url https://www.frontiersin.org/articles/10.3389/fnmol.2024.1512455/full
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