MTHFR AND ApoE genetic variants association with sudden sensorineural hearing loss

Hamidi, Armita Kakavand; Yazdani, Nasrin; Seyedjavadi, Kimia Haj; Ahrabi, Nakisa Zarrabi; Tajdini, Ardavan; Aghazadeh, Keyvan; Amoli, Mahsa M.

doi:10.1016/j.amjoto.2018.10.015

Cited by 9 publications

(7 citation statements)

References 31 publications

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“…36 Up to date, no data have been published regarding its frequency in Jordanian Arab population. 37 This SNP is known to be associated with multiple neurological diseases such as sensorineural hearing loss, 38 Parkinson disease, 39 Alzheimer disease, 40 and Migraine. 41 In this study, rs1801133 was found to be associated with GE but not with epilepsy in general.…”

Section: Discussionmentioning

confidence: 99%

<p>Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients</p>

AL-Eitan

Al-Dalalah

Mustafa

et al. 2019

PGPM

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Background Epilepsy is one of the most common neurological diseases with unclear etiology where its genetic background and treatment regime still need further exploration. Objectives This study designed to evaluate the pharmacogenomics of MTHFR and ABCC2 genes, and their association with epilepsy susceptibility among Jordanian population. Methods A case-control study was conducted on Jordanian cohort of 296 epileptic patients and 299 healthy individuals. Custom platform array was used to genotype the genetic polymorphisms within MTHFR (rs1801133) and ABCC2 ( rs717620, rs3740066, rs2273697) genes. Results This study revealed a significant genetic association of MTHFR rs1801133 polymorphism with susceptibility to generalized in general and generalized tonic-clonic epilepsy (GTCE)( p =0.018 and 0.01, respectively). Regarding ABCC2 gene, rs717620 was of linkage with generalized and GTCE subtypes ( p =0.045 and 0.048, respectively), while rs717620 was associated with poor responder patients ( p =0.036) with no linkage of the ABCC2 haplotypes. Conclusions MTHFR and ABCC2 polymorphisms showed an association with either epilepsy types in general or subtypes and treatment response among Jordanian population. This study also suggested that these gene polymorphisms have an important role in epilepsy development and drug effectiveness and could be of a great impact in the era of epilepsy diagnosis and treatment.

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Section: Discussionmentioning

confidence: 99%

<p>Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients</p>

AL-Eitan

Al-Dalalah

Mustafa

et al. 2019

PGPM

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“…However, the mechanisms involved in these beneficial effects are not well established [33]. A recent study showed that Apo E gene variants may have been associated with sudden sensorineural hearing loss in an Iranian population [34]. These studies indicate that cholesterol metabolism may be important in hearing loss recovery after noise exposure.…”

Section: Discussionmentioning

confidence: 99%

Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss

Sai

Zhang

et al. 2020

Neural Plasticity

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The objective of this study was to explore the molecular mechanisms of acute noise-induced hearing loss and recovery of steady-state noise-induced hearing loss using miniature pigs. We used miniature pigs exposed to white noise at 120 dB (A) as a model. Auditory brainstem response (ABR) measurements were made before noise exposure, 1 day and 7 days after noise exposure. Proteomic Isobaric Tags for Relative and Absolute Quantification (iTRAQ) was used to observe changes in proteins of the miniature pig inner ear following noise exposure. Western blot and immunofluorescence were performed for further quantitative and qualitative analysis of proteomic changes. The average ABR-click threshold of miniature pigs before noise exposure, 1 day and 7 days after noise exposure, were 39.4 dB SPL, 67.1 dB SPL, and 50.8 dB SPL, respectively. In total, 2,158 proteins were identified using iTRAQ. Both gene ontology and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analyses showed that immune and metabolic pathways were prominently involved during the impairment stage of acute hearing loss. During the recovery stage of acute hearing loss, most differentially expressed proteins were related to cholesterol metabolism. Western blot and immunofluorescence showed accumulation of reactive oxygen species and nuclear translocation of NF-κB (p65) in the hair cells of miniature pig inner ears during the acute hearing loss stage after noise exposure. Nuclear translocation of NF-κB (p65) may be associated with overexpression of downstream inflammatory factors. Apolipoprotein (Apo) A1 and Apo E were significantly upregulated during the recovery stage of hearing loss and may be related to activation of cholesterol metabolic pathways. This is the first study to use proteomics analysis to analyze the molecular mechanisms of acute noise-induced hearing loss and its recovery in a large animal model (miniature pigs). Our results showed that activation of metabolic, inflammatory, and innate immunity pathways may be involved in acute noise-induced hearing loss, while cholesterol metabolic pathways may play an important role in recovery of hearing ability following noise-induced hearing loss.

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“…28 Data in the current literature show that several genetic polymorphisms correlated with oxidative stress, inflammation, thrombosis, and blood vessel permeability are associated to SSNHL predisposition and development. 10,12,20,24,28,36,37,40,41 On the basis of this evidence, it could be hypothesized that genetic factors could play a role in maintaining the delicate balance between ROS and antioxidants, pro-inflammatory and anti-inflammatory factors, proaggregants, and antiaggregants; since the balance among these factors is important for the inner ear homeostasis, their disruption could be a factor contributing to the ISSNHL onset. Furthermore, a possible link between SSNHL and major cardiovascular diseases, such as stroke and myocardial infarction, has been previously highlighted.…”

Section: Discussionmentioning

confidence: 99%

“…Methylenetetrahydrofolate reductase is involved in the transformation process of homocysteine into methionine 34 ;the MTFHR p.Ala222Val mutation decreases the enzyme's function and the homozygosis status represents the most common genetic cause of hyperhomocysteinemia, 35 a condition predisposing thrombotic events. In a recent case-control study in an Iranian population, Hamidi et al 36 concluded that the MTFHR p.Ala222Val polymorphism has a significant impact on SSNHL development.…”

Section: Genetic Polymorphisms and Inner Ear Inflammation And/or Oxidative Stressmentioning

confidence: 99%

Genetic Polymorphisms in Sudden Sensorineural Hearing Loss: An Update

et al. 2020

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Objective: To investigate the association between genetic polymorphisms and sudden sensorineural hearing loss (SSNHL). Most of the SSNHL cases still remain idiopathic, and several etiopathogenetic hypotheses, including a genetic predisposition, have been proposed. Methods: A literature review was conducted using different databases: Medline/PubMed, EMBASE, and CINAHL, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. All databases have been searched from May 2016 to April 2020. Results: Genetic susceptibility could represent a key element in the pathogenesis of SSNHL. A number of genetic polymorphisms related to (1) inner ear microvascular disease and endothelial dysfunction and (2) to inner ear oxidative stress and inflammation have been addressed in the current literature. Conclusions: The potential identification of a genetic profile related to SSNHL could provide a more accurate prognostic evidence of idiopathic SSNHL (ISSNHL), offering to the patients not only early-prevention strategies but eventually information on various inheritance modalities.

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MTHFR AND ApoE genetic variants association with sudden sensorineural hearing loss

Cited by 9 publications

References 31 publications

<p>Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients</p>

<p>Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients</p>

Involvement of Cholesterol Metabolic Pathways in Recovery from Noise-Induced Hearing Loss

Genetic Polymorphisms in Sudden Sensorineural Hearing Loss: An Update

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