首页|Congenital hydrocephalus:a review of recent advances in genetic etiology and molecular mechanisms

Congenital hydrocephalus:a review of recent advances in genetic etiology and molecular mechanisms

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The global prevalence rate for congenital hydrocephalus(CH)is approximately one out of every five hundred births with multifaceted predisposing factors at play.Genetic influences stand as a major contributor to CH pathogenesis,and epidemiological evidence suggests their involvement in up to 40％of all cases observed globally.Knowledge about an individual's genetic susceptibility can significantly improve prognostic precision while aiding clinical decision-making processes.However,the precise genetic etiology has only been pinpointed in fewer than 5％of human instances.More occurrences of CH cases are required for comprehensive gene sequencing aimed at uncovering additional potential genetic loci.A deeper comprehension of its underlying genetics may offer invaluable insights into the molecular and cellular basis of this brain disorder.This review provides a summary of pertinent genes identified through gene sequencing technologies in humans,in addition to the 4 genes currently associated with CH(2 X-linked genes L1CAM and AP1S2,2 autosomal recessive MPDZ and CCDC88C).Others predominantly participate in aqueduct abnormalities,ciliary movement,and nervous system development.The prospective CH-related genes revealed through animal model gene-editing techniques are further outlined,focusing mainly on 4 pathways,namely cilia synthesis and movement,ion channels and transportation,Reissner's fiber(RF)synthesis,cell apoptosis,and neurogenesis.Notably,the proper functioning of motile cilia provides significant impulsion for cerebrospinal fluid(CSF)circulation within the brain ventricles while mutations in cilia-related genes constitute a primary cause underlying this condition.So far,only a limited number of CH-associated genes have been identified in humans.The integration of genotype and phenotype for disease diagnosis represents a new trend in the medical field.Animal models provide insights into the pathogenesis of CH and contribute to our understanding of its association with related complications,such as renal cysts,scoliosis,and cardiomyopathy,as these genes may also play a role in the development of these diseases.Genes discovered in animals present potential targets for new treatments but require further validation through future human studies.

Congenital hydrocephalusGenetic diseaseCentral systemCiliaVentricle

Xiu-Yun Liu、Xin Song、Marek Czosnyka、Chiara Robba、Zofia Czosnyka、Jennifer Lee Summers、Hui-Jie Yu、Guo-Yi Gao、Peter Smielewski、Fang Guo、Mei-Jun Pang、Dong Ming

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Medical School,Tianjin University,Tianjin 300072,China

State Key Laboratory of Advanced Medical Materials and Devices,Tianjin University,Tianjin 300072,China

Haihe Laboratory of Brain-Computer Interaction and Human-Machine Integration,Tianjin 300380,China

School of Pharmaceutical Science and Technology,Tianjin University,300072 Tianjin,China

Department of Clinical Neurosciences,Addenbrooke's Hospital,University of Cambridge,Cambridge CB2 0QQ,UK

San Martino Policlinico Hospital,IRCCS for Oncology and Neuroscience,16132 Genoa,Italy

Department of Anesthesiology and Critical Care Medicine,Johns Hopkins University,Baltimore,MD 21287,USA

Department of Neurosurgery,Tianjin Medical University General Hospital,Tianjin 300052,China

Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China

Department of Neurosurgery,Tianjin Huanhu Hospital,Tianjin 300350,China

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2024

10.1186/s40779-024-00560-5

军事医学研究(英文)

军事医学研究(英文)

CSTPCD
ISSN：2095-7467
年,卷(期)：2024.11(6)