Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview

Manickam, Agaath Hedina; Ramasamy, Sivasamy

doi:10.4103/0028-3886.325378

Cited by 6 publications

(3 citation statements)

References 123 publications

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“…This channel mediates Ca 2+ ion entry into excitable cells and participates in various calcium-dependent biological processes such as muscle contraction, neurotransmitter, and hormone release. CACNA1A mutations are associated with various neurological diseases such as migraine, epilepsy, paroxysmal ataxia, and spinocerebellar ataxia 32 . In primary glioblastoma, CACNA1A expression is upregulated and involved in the development of cancer stem cells (CSC) and the regulation of related signaling pathways 33 .…”

Section: Discussionmentioning

confidence: 99%

Screening of co-expressed genes in hypopharyngeal carcinoma with esophageal carcinoma based on RNA sequencing and Clinical Research

Zhang,

Zou,

Tan

et al. 2024

Sci Rep

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To explore the hub comorbidity genes and potential pathogenic mechanisms of hypopharyngeal carcinoma with esophageal carcinoma, and evaluate their diagnostic value for hypopharyngeal carcinoma with co-morbid esophageal carcinoma. We performed gene sequencing on tumor tissues from 6 patients with hypopharyngeal squamous cell carcinoma with esophageal squamous cell carcinoma (hereafter referred to as “group A”) and 6 patients with pure hypopharyngeal squamous cell carcinoma (hereafter referred to as “group B”). We analyzed the mechanism of hub genes in the development and progression of hypopharyngeal squamous cell carcinoma with esophageal squamous cell carcinoma through bioinformatics, and constructed an ROC curve and Nomogram prediction model to analyze the value of hub genes in clinical diagnosis and treatment. 44,876 genes were sequenced in 6 patients with group A and 6 patients with group B. Among them, 76 genes showed significant statistical differences between the group A and the group B.47 genes were expressed lower in the group A than in the group B, and 29 genes were expressed higher. The top five hub genes were GABRG2, CACNA1A, CNTNAP2, NOS1, and SCN4B. GABRG2, CNTNAP2, and SCN4B in the hub genes have high diagnostic value in determining whether hypopharyngeal carcinoma patients have combined esophageal carcinoma (AUC: 0.944, 0.944, 0.972). These genes could possibly be used as potential molecular markers for assessing the risk of co-morbidity of hypopharyngeal carcinoma combined with esophageal carcinoma.

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Section: Discussionmentioning

confidence: 99%

Screening of co-expressed genes in hypopharyngeal carcinoma with esophageal carcinoma based on RNA sequencing and Clinical Research

Zhang,

Zou,

Tan

et al. 2024

Sci Rep

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“…Genome association studies have discovered epilepsy disease susceptibility to variations in the CACNA1A gene [45]. Additionally, the GABA A receptor gamma-3 (GABRG3) has a suggestive association with aggressiveness temperament in bovines [46].…”

Section: Discussionmentioning

confidence: 99%

Genetic Variants and Their Putative Effects on microRNA-Seed Sites: Characterization of the 3′ Untranslated Region of Genes Associated with Temperament

Ruiz-de-la-Cruz

Sifuentes‐Rincón

Casas

et al. 2023

Genes

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The 3′ untranslated region has an important role in gene regulation through microRNAs, and it has been estimated that microRNAs regulate up to 50% of coding genes in mammals. With the aim of allelic variant identification of 3′ untranslated region microRNA seed sites, the 3′ untranslated region was searched for seed sites of four temperament-associated genes (CACNG4, EXOC4, NRXN3, and SLC9A4). The microRNA seed sites were predicted in the four genes, and the CACNG4 gene had the greatest number with 12 predictions. To search for variants affecting the predicted microRNA seed sites, the four 3′ untranslated regions were re-sequenced in a Brahman cattle population. Eleven single nucleotide polymorphisms were identified in the CACNG4, and eleven in the SLC9A4. Rs522648682:T>G of the CACNG4 gene was located at the predicted seed site for bta-miR-191. Rs522648682:T>G evidenced an association with both exit velocity (p = 0.0054) and temperament score (p = 0.0097). The genotype TT had a lower mean exit velocity (2.93 ± 0.4 m/s) compared with the TG and GG genotypes (3.91 ± 0.46 m/s and 3.67 ± 0.46 m/s, respectively). The allele associated with the temperamental phenotype antagonizes the seed site, disrupting the bta-miR-191 recognition. The G allele of CACNG4-rs522648682 has the potential to influence bovine temperament through a mechanism associated with unspecific recognition of bta-miR-191.

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“…Both of these disorders are associated with a higher rate of migraine and nausea, and the penetrance and clinical expression of the mutations are highly variable, with several different mutations causing each syndrome identified thus far. The variable clinical expression of different mutations within the CACNA1A gene, the phenotypic heterogeneity amongst those affected by the same genetic mutation, the sometimes overlapping clinical phenotypes, and the high prevalence of migraine amongst all the mutations is interesting and suggests shared biological mechanisms between ion channel-mediated alterations in neurotransmission and cortical excitability in migraine and these other neurological conditions [ 80 , 81 ].…”

Section: Monogenic Models Of Migrainementioning

confidence: 99%

Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations

Gosalia

Karsan

Goadsby

2023

IJMS

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Migraine is a disabling neurological disorder burdening patients globally. Through the increasing development of preclinical and clinical experimental migraine models, advancing appreciation of the extended clinical phenotype, and functional neuroimaging studies, we can further our understanding of the neurobiological basis of this highly disabling condition. Despite increasing understanding of the molecular and chemical architecture of migraine mechanisms, many areas require further investigation. Research over the last three decades has suggested that migraine has a strong genetic basis, based on the positive family history in most patients, and this has steered exploration into possibly implicated genes. In recent times, human genome-wide association studies and rodent genetic migraine models have facilitated our understanding, but most migraine seems polygenic, with the monogenic migraine mutations being considerably rarer, so further large-scale studies are required to elucidate fully the genetic underpinnings of migraine and the translation of these to clinical practice. The monogenic migraine mutations cause severe aura phenotypes, amongst other symptoms, and offer valuable insights into the biology of aura and the relationship between migraine and other conditions, such as vascular disease and sleep disorders. This review will provide an outlook of what is known about some monogenic migraine mutations, including familial hemiplegic migraine, familial advanced sleep-phase syndrome, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

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Mutations in the Voltage Dependent Calcium Channel CACNA1A (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview

Cited by 6 publications

References 123 publications

Screening of co-expressed genes in hypopharyngeal carcinoma with esophageal carcinoma based on RNA sequencing and Clinical Research

Screening of co-expressed genes in hypopharyngeal carcinoma with esophageal carcinoma based on RNA sequencing and Clinical Research

Genetic Variants and Their Putative Effects on microRNA-Seed Sites: Characterization of the 3′ Untranslated Region of Genes Associated with Temperament

Genetic Mechanisms of Migraine: Insights from Monogenic Migraine Mutations

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