Dataset Information

TRPM7 as a Candidate Gene for Vestibular Migraine.

ABSTRACT: Objectives: Vestibular migraine (VM) is a common vestibular disorder, and familial aggregation of VM with autosomal-dominant inheritance has been described, which supports a genetic background. This study aimed to describe the clinical phenotype of a family with VM, and identify a candidate gene for VM. Methods: We recruited six individuals (four affected and two unaffected) from three consecutive generations of a Korean family with VM, and performed whole-exome sequencing to search for candidate genes. Results: All affected individuals presented with recurrent vertigo, headache, and nausea/vomiting that fulfilled the diagnostic criteria of VM. Two individuals also experienced transient hemiparesis or dysarthria during the episodes. The symptoms were triggered by physical or emotional stress. Interictal examinations showed uni- or bi-directional horizontal gaze-evoked nystagmus in three of the individuals. They had no causative mutations in genes causing familial hemiplegic migraine or episodic ataxia. Through whole-exome sequencing from three affected individuals, we identified a nonsense mutation c.3526C>T in TRPM7 that encodes a cation channel selective to Ca2+ and Mg2+. Conclusions: Alterations in intracellular Ca2+ and Mg2+ homeostasis by TRPM7 mutation may contribute to the development of the VM phenotype. Our result suggest that TRPM7 is a novel candidate gene for VM.

SUBMITTER: Oh EH

PROVIDER: S-EPMC7649787 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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TRPM7 as a Candidate Gene for Vestibular Migraine.

Oh Eun Hye EH Shin Jin-Hong JH Cho Jae Wook JW Choi Seo-Young SY Choi Kwang-Dong KD Choi Jae-Hwan JH

Frontiers in neurology 20201023

Objectives: Vestibular migraine (VM) is a common vestibular disorder, and familial aggregation of VM with autosomal-dominant inheritance has been described, which supports a genetic background. This study aimed to describe the clinical phenotype of a family with VM, and identify a candidate gene for VM. Methods: We recruited six individuals (four affected and two unaffected) from three consecutive generations of a Korean family with VM, and performed whole-exome sequencing to searc ...[more]

PMID: 33193064

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Project description:BACKGROUND:Vestibular migraine is a common cause of episodic vertigo. Many preventive treatments have been proposed for this condition, including calcium antagonists, beta-blockers, antidepressants, anticonvulsants, selective 5-HT1 agonists, serotonin antagonists and non-steroidal anti-inflammatory drugs (NSAIDs). OBJECTIVES:To assess the effects of pharmacological agents for the prevention of vestibular migraine. SEARCH METHODS:The Cochrane Ear, Nose and Throat Disorders Group (CENTDG) Trials Search Co-ordinator searched the CENTDG Trials Register; Central Register of Controlled Trials (CENTRAL 2015, Issue 5); PubMed; EMBASE; CINAHL; Web of Science; Clinicaltrials.gov; ICTRP and additional sources for published and unpublished trials. The date of the search was 5 June 2015. SELECTION CRITERIA:Randomised controlled trials (RCTs) in adults (over 18 years) with a diagnosis of vestibular migraine orprobable vestibular migraine according to the Bárány Society/International Headache Society (IHS) criteria, treated in any setting, comparing pharmacological treatments used in the prevention of vestibular migraine, including beta-blockers, calcium antagonists, anticonvulsants, antidepressants, serotonin antagonists and non-steroidal anti-inflammatory drugs (NSAIDs) against placebo or no treatment. DATA COLLECTION AND ANALYSIS:We used the standard methodological procedures expected by The Cochrane Collaboration. MAIN RESULTS:Our literature search identified 558 reports, however only 11 were sufficiently relevant for further assessment. We excluded two studies because they did not use the IHS diagnostic criteria for vestibular migraine. We excluded a further eight studies for various reasons related to their design (e.g. lack of placebo or no treatment comparator), aim (e.g. treatment of vestibular migraine rather than prevention) or conduct (e.g. early termination). We identified one ongoing study comparing metoprolol to placebo. The results of this study are awaited; recruitment of the last patient is expected by the end of 2016. AUTHORS' CONCLUSIONS:We found no evidence from RCTs to answer the question set out in the review objectives. This review has identified the need for well-designed randomised controlled trials to answer questions about the efficacy of current and new treatments.

Dataset Information

TRPM7 as a Candidate Gene for Vestibular Migraine.

Publications

<i>TRPM7</i> as a Candidate Gene for Vestibular Migraine.

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