Cav1.4

更新于：2025-05-07

基本信息

别名

AIED、Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)、CACNA1F

+ [13]

简介

Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization. Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations. Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. Voltage-dependent L-type calcium channel activates at more hyperpolarized voltages and exhibits a robust calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarizations.

关联

100 项与 Cav1.4 相关的临床结果

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100 项与 Cav1.4 相关的转化医学

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0 项与 Cav1.4 相关的专利（医药）

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274

项与 Cav1.4 相关的文献（医药）

2025-12-31·Channels

Exploring the potential for gene therapy in Cav1.4-related retinal channelopathies

Review

作者: Ganglberger, Matthias ; Koschak, Alexandra

The visual process begins with photon detection in photoreceptor outer segments within the retina, which processes light signals before transmission to the thalamus and visual cortex. Cav1.4 L-type calcium channels play a crucial role in this process, and dysfunction of these channels due to pathogenic variants in corresponding genes leads to specific manifestations in visual impairments. This review explores the journey from basic research on Cav1.4 L-type calcium channel complexes in retinal physiology and pathophysiology to their potential as gene therapy targets. Moreover, we provide a concise overview of key findings from studies using different animal models to investigate retinal diseases. It will critically examine the constraints these models present when attempting to elucidate retinal channelopathies. Additionally, the paper will explore potential strategies for addressing Cav1.4 channel dysfunction and discuss the current challenges facing gene therapy approaches in this area of research.

2025-03-01·Current Aging Science

A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and In Silico Analysis in an Iranian Family with Consanguineous Relationships

Article

作者: Sharafshah, Alireza ; Amiri, Amir ; Faizmahdavi, Hanieh ; Mansouri, Nasrin ; Darabi, Parichehr ; Assefi, Marjan ; Omarmeli, Vahid ; Lewandrowski, Kai-Uwe

Background:X-linked mutations are highly important in clinical diagnosis, and at least 533 disorders are related to the genes located on the X chromosome.Case Presentation:A 21-year-old Caucasian woman with a 24-year-old Caucasian man as her fiancé referred Clinical genetic lab for premarital genetic counseling (carrier screening). None of them had any abnormal manifestations. Following genetic counseling, Whole Exome Sequencing (WES) test performed to find the possible pathogenic mutations. Also, after drawing the couple's pedigree, candidate mutations were examined in the woman's parents as well as her uncles. Additionally, in silico investigations were performed through SWISS-MODEL, MolProbity, ProSA, Py- Mol, and FATCAT tools. The most important mutation diagnosed in the woman (R1362Q in the 35th exon of CACNA1F), was observed in her mother and her two uncles. The mutation was also screened in both her father and her fiancé, but they had no mutations. After medical examinations of carriers, there was no sign of any eye impairment. Other mutations were TCTN2 (c.1613-2A>G), TARS (p.K319E), SPEG (p.E3020K), CPS1 (p.A1180V), MYO3A (p.I736M), NNT (p.R968Q), MED23 (p.K406T). Bioinformatics analyses indicated no alteration in the mutant structure of CACNA1F (Q1362) compared with the normal structure (R1362).Conclusion:Conclusively, the current study emphasizes the non-pathogenic effect of missense mutation R1362Q in the 35th exon of CACNA1F in association with ocular diseases. This will ensure the reports of this mutation as healthy instead of uncertain in the literature and databanks.

2025-02-01·British Journal of Ophthalmology

Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study

Article

作者: Banin, Eyal ; Vincent, Ajoy ; Sisk, Robert ; Kuehlewein, Laura ; Stephenson, Andrew ; Preising, Markus ; Sharon, Dror ; Sundaramurthy, Srilekha ; Webster, Andrew ; Vincent, Andrea ; Luski, Shahar ; Yang, Paul ; Van Den Broeck, Filip ; Balikova, Irina ; Meunier, Isabelle ; Munier, Francis L ; Dollfus, Hélène ; Lorenz, Birgit ; Yassin, Shaden ; Heon, Elise ; Casteels, Ingele ; Schwartz, Hillary ; Raghuram, Aparna ; Everett, Lesley ; Khateb, Samer ; Iannaccone, Alessandro ; Krauss, Emily ; White, Elizabeth ; Wilson, Lorri B ; De Baere, Elfride ; Tayyib, Alaa ; Stingl, Katarina ; Bedoukian, Emma C ; Choi, Dongseok ; Walraedt, Sophie ; Zeitz, Christina ; Kohl, Susanne ; Fredrick, Douglas ; Zanlonghi, Xavier ; Gottlob, Irene ; O'Neil, Erin C ; Nagasamy, Soumittra ; Borooah, Shyamanga ; Aleman, Tomas S ; Jordan, Charlotte ; Mahroo, Omar A ; Katta, Mohamed ; Leroy, Bart Peter ; Reith, Milda ; Pennesi, Mark Edward ; Koenekoop, Robert ; Michaelides, Michel ; Igelman, Austin D ; Fulton, Anne ; Sen, Parveen ; McLean, Rebecca J ; Nagiel, Aaron

Background/Aaims Congenital stationary night blindness (CSNB) is an inherited retinal disease that is often associated with high myopia and can be caused by pathological variants in multiple genes, most commonly CACNA1F , NYX and TRPM1 . High myopia is associated with retinal degeneration and increased risk for retinal detachment. Slowing the progression of myopia in patients with CSNB would likely be beneficial in reducing risk, but before interventions can be considered, it is important to understand the natural history of myopic progression. Methods This multicentre, retrospective study explored CSNB caused by variants in CACNA1F , NYX or TRPM1 in patients who had at least 6 measurements of their spherical equivalent of refraction (SER) before the age of 18. A mixed-effect model was used to predict progression of SER overtime and differences between genotypes were evaluated. Results 78 individuals were included in this study. All genotypes showed a significant myopic predicted SER at birth (−3.076D, −5.511D and −5.386D) for CACNA1F , NYX and TRPM1 respectively. Additionally, significant progression of myopia per year (−0.254D, −0.257D and −0.326D) was observed for all three genotypes CACNA1F , NYX and TRPM1 , respectively. ConclusionsPatients with CSNB tend to be myopic from an early age and progress to become more myopic with age. Patients may benefit from long-term myopia slowing treatment in the future and further studies are indicated. Additionally, CSNB should be considered in the differential diagnosis for early-onset myopia.

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