Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

Demir, Gizem Ürel; Şimşek‐Kiper, Pelin Özlem; Öncel, İbrahim; Ütine, Gülen Eda; Haliloğlu, Göknur; Boduroğlu, Koray

doi:10.1016/j.ejpn.2021.03.011

Cited by 7 publications

(9 citation statements)

References 34 publications

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“…PACSIN3 encodes a protein involved in the actin cytoskeleton and formation of vesicles ( 80 ). This protein also binds TRPV4; channelopathy mutations in the TRPV4 gene lead to skeletal dysplasias, Charcot-Marie-Tooth disease subtype 2C, premature osteoarthritis, and neurological disorders ( 81 ). TRPV4 channels are also important in skin function ( 82 ) and are involved in the itch-scratch cycle ( 83 , 84 ).…”

Section: Discussionmentioning

confidence: 99%

Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing

Johnston,

Cote,

Hicks

et al. 2024

Biological Psychiatry

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Section: Discussionmentioning

confidence: 99%

Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing

Johnston,

Cote,

Hicks

et al. 2024

Biological Psychiatry

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“…At present, the focus of treatment is on symptom management. Main treatment modalities include physical rehabilitation therapy, orthoses and assistive devices, as well as occupational therapy ( 19 ). Due to the rarity of the condition, there is limited post-treatment reporting.…”

Section: Discussionmentioning

confidence: 99%

Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Wang,

Jin,

Zhu

et al. 2024

Front. Pediatr.

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Neuronopathy, distal hereditary motor, type VIII is an exceedingly rare autosomal dominant genetic disorder, also known as congenital non-progressive distal spinal muscular atrophy. It is characterized by progressive weakness in distal motor function and atrophy of muscles, without accompanying sensory impairment. Presently, there is limited literature on this condition, and accurate epidemiological data regarding its incidence remains unavailable. We report a paediatric case of distal hereditary motor, type VIII that is caused by a heterozygous missense mutation in the TRPV4 gene (NM_021625): c.805C>T. The proband is a 7-year-old male child. During pregnancy, his mother had prenatal ultrasound revealing “inward turning of the feet”, a condition persisting after birth. The proband is currently unable to stand independently, exhibiting bilateral clubfoot deformity. Although possessing normal cognitive function, he cannot walk unaided. Computed radiography findings reveal pelvic tilt, bilateral knee joint valgus, and bilateral clubfoot. The patient underwent familial exome sequencing, revealing a mutation in the TRPV4 gene (NM_021625): c.805C>T (p.Arg269Cys). Considering the patient’s medical history, clinical manifestations, imaging studies, and genetic test results, the diagnosis for this individual is Neuronopathy, distal hereditary motor, type VIII. This report documents a case involving the TRPV4 gene mutation associated with Neuronopathy, distal hereditary motor, type VIII, contributing valuable case reference for the early diagnosis of this condition.

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“…However, the same effect occurs also, thanks to mutations, in the pore region or other domains such as the C-terminus. All these point mutations affect the basal activity of TRPV4, but none of them causes a complete loss of function [ 37 , 38 ].…”

Section: Trpv4 Channelsmentioning

confidence: 99%

Astrocytic TRPV4 Channels and Their Role in Brain Ischemia

Tureckova

Heřmanová

Marchetti

et al. 2023

IJMS

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Transient receptor potential cation channels subfamily V member 4 (TRPV4) are non-selective cation channels expressed in different cell types of the central nervous system. These channels can be activated by diverse physical and chemical stimuli, including heat and mechanical stress. In astrocytes, they are involved in the modulation of neuronal excitability, control of blood flow, and brain edema formation. All these processes are significantly impaired in cerebral ischemia due to insufficient blood supply to the tissue, resulting in energy depletion, ionic disbalance, and excitotoxicity. The polymodal cation channel TRPV4, which mediates Ca2+ influx into the cell because of activation by various stimuli, is one of the potential therapeutic targets in the treatment of cerebral ischemia. However, its expression and function vary significantly between brain cell types, and therefore, the effect of its modulation in healthy tissue and pathology needs to be carefully studied and evaluated. In this review, we provide a summary of available information on TRPV4 channels and their expression in healthy and injured neural cells, with a particular focus on their role in ischemic brain injury.

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Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

Cited by 7 publications

References 34 publications

Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing

Genetically Regulated Gene Expression in the Brain Associated With Chronic Pain: Relationships With Clinical Traits and Potential for Drug Repurposing

Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Astrocytic TRPV4 Channels and Their Role in Brain Ischemia

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