Molecular Analysis of Aquaporin Genes 1 to 4 in Patients with Menière’s Disease

Candreia, Claudia; Schmuziger, Nicolas; Gürtler, Nicolas

doi:10.1159/000322346

Cited by 32 publications

(13 citation statements)

References 32 publications

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“…One single variation (G105C) in the AQP3 gene was found in 11 patients (32%) with Menière's disease, an episodic cochleovestibular dysfunction of unknown etiology. 72 Prudente and colleagues identified one SNP (A953G) in the promoter region of the AQP7 gene, resulting in an impaired ability to bind the CCAAT/enhancer binding protein β (C/EBPβ) transcription factor. 41 Furthermore, it was shown that the AQP7 gene expression was lower in adipose tissue of obese subjects.…”

Section: Resultsmentioning

confidence: 99%

Aquaglyceroporins serve as metabolic gateways in adiposity and insulin resistance control

et al. 2011

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Aquaglyceroporins (AQP3, AQP7, AQP9 and AQP10) encompass a subfamily of aquaporins that allow the movement of water and other small solutes, especially glycerol, through cell membranes. Adipose tissue constitutes a major source of glycerol via AQP7. We have recently reported that, in addition to the well-known expression of AQP7 in adipose tissue, AQP3 and AQP9 are also expressed in omental and subcutaneous fat depots. Moreover, insulin and leptin act as regulators of aquaglyceroporins through the PI3K/Akt/mTOR pathway. AQP3 and AQP7 appear to facilitate glycerol efflux from adipose tissue while reducing the glycerol influx into hepatocytes via AQP9 to prevent the excessive lipid accumulation and the subsequent aggravation of hyperglycemia in human obesity. This Extra View focuses on the control of glycerol release by aquaglyceroporins in the adipose tissue and briefly discusses the importance of glycerol as a substrate for hepatic gluconeogenesis, pancreatic insulin secretion and cardiac ATP production.

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Section: Resultsmentioning

confidence: 99%

Aquaglyceroporins serve as metabolic gateways in adiposity and insulin resistance control

et al. 2011

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“…Vertigo attacks may arise from interplay of increased vasopressin release and allelic variants in AQP genes [ 59 ]. To date, genotyping studies on AQP have produced controversial results in AQP2 and AQP4 genes [ 58 ], and a homozygous c.105G- > C synonymous variant in AQP3 was found in 11 of 34 patients with MD [ 60 ].…”

Section: Sensorineural Hearing Loss With Variable Vestibular Dysfunctmentioning

confidence: 99%

Genetics of vestibular disorders: pathophysiological insights

et al. 2016

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The two most common vestibular disorders are motion sickness and vestibular migraine, affecting 30 and 1–2 % of the population respectively. Both are related to migraine and show a familial trend. Bilateral vestibular hypofunction is a rare condition, and some of patients also present cerebellar ataxia and neuropathy. We present recent advances in the genetics of vestibular disorders with familial aggregation. The clinical heterogeneity observed in different relatives of the same families suggests a variable penetrance and the interaction of several genes in each family. Some Mendelian sensorineural hearing loss also exhibits vestibular dysfunction, including DFNA9, DFNA11, DFNA15 and DFNA28. However, the most relevant finding during the past years is the familial clustering observed in Meniere’s disease. By using whole exome sequencing and combining bioinformatics tools, novel variants in DTNA and FAM136A genes have been identified in familial Meniere’s disease, and this genomic strategy will facilitate the discovery of the genetic basis of familial vestibular disorders.

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“…A total of 47 studies examining AQP expression in the inner ear have been identified (Table ) . Of the 47 studies, 16 were in mice, 17 in rats, 17 in humans, and seven in other species.…”

Section: General Characteristics Of Aquaporinsmentioning

confidence: 99%

Expression of aquaporins in inner ear disease

Dong

Kim

et al. 2019

The Laryngoscope

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The inner ear is responsible for hearing and balance and consists of a membranous labyrinth within a bony labyrinth. The balance structure is divided into the otolith organ that recognizes linear acceleration and the semicircular canal that is responsible for rotational movement. The cochlea is the hearing organ. The external and middle ear are covered with skin and mucosa, respectively, and the space is filled with air, whereas the inner ear is composed of endolymph and perilymph. The inner ear is a fluid-filled sensory organ composed of hair cells with cilia on the upper part of the cells that convert changes in sound energy and balance into electric energy through the hair cells to transmit signals to the auditory nerve through synapses. Aquaporins (AQPs) are a family of transmembrane proteins present in all species that can be roughly divided into three subfamilies according to structure and function: 1) classical AQP, 2) aquaglyceroporin, and 3) superaquaporin. Currently, the subfamily of mammalian species is known to include 13 AQP members (AQP0-AQP12). AQPs have a variety of functions depending on their structure and are related to inner ear diseases such as Meniere's disease, sensorineural hearing loss, and presbycusis. Additional studies on the relationship between the inner ear and AQPs may be helpful in the diagnosis and treatment of inner ear disease.

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Molecular Analysis of Aquaporin Genes 1 to 4 in Patients with Menière’s Disease

Cited by 32 publications

References 32 publications

Aquaglyceroporins serve as metabolic gateways in adiposity and insulin resistance control

Aquaglyceroporins serve as metabolic gateways in adiposity and insulin resistance control

Genetics of vestibular disorders: pathophysiological insights

Expression of aquaporins in inner ear disease

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