Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2024 May 5;12(5):90.
doi: 10.3390/diseases12050090.

A Review of the CACNA Gene Family: Its Role in Neurological Disorders

Oliwia Szymanowicz  1 , Artur Drużdż  2 , Bartosz Słowikowski  3 , Sandra Pawlak  1 , Ewelina Potocka  1 , Ulyana Goutor  1 , Mateusz Konieczny  1 , Małgorzata Ciastoń  1 , Aleksandra Lewandowska  1 , Paweł P Jagodziński  3 , Wojciech Kozubski  4 , Jolanta Dorszewska  1
Affiliations
Review

A Review of the CACNA Gene Family: Its Role in Neurological Disorders

Oliwia Szymanowicz et al. Diseases. .

Abstract

Calcium channels are specialized ion channels exhibiting selective permeability to calcium ions. Calcium channels, comprising voltage-dependent and ligand-gated types, are pivotal in neuronal function, with their dysregulation is implicated in various neurological disorders. This review delves into the significance of the CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in the pathogenesis of conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Specifically, variants in CACNA1A have been linked to familial hemiplegic migraine and epileptic seizures, underscoring its importance in neurological disease etiology. Furthermore, different genetic variants of CACNA1B have been associated with migraine susceptibility, further highlighting the role of CACNA genes in migraine pathology. The complex relationship between CACNA gene variants and neurological phenotypes, including focal seizures and ataxia, presents a variety of clinical manifestations of impaired calcium channel function. The aim of this article was to explore the role of CACNA genes in various neurological disorders, elucidating their significance in conditions such as migraine, epilepsy, and cerebellar ataxias. Further exploration of CACNA gene variants and their interactions with molecular factors, such as microRNAs, holds promise for advancing our understanding of genetic neurological disorders.

Keywords: CACNA genes; calcium channels; genetic variants; neurological disease.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflicts of interest.

Figures

Figure 1
Figure 1
The role of CACNA genes in the functioning of the nervous system. The function of individual CACNA from 1A to 1F, and 1S genes in the nervous system and the linkage of CACNA genes to the mechanisms that regulate Ca2+ ion transport.
Figure 2
Figure 2
Involvement of CACNA genes in the pathogenesis of neurological diseases. The involvement of variants of the Ca2+ channel gene, CACNA, in the etiology of rare neurological diseases, the common denominators of which are variable paroxysmal symptoms (migraine, epilepsy) and chronic cerebellar dysfunction (cerebral atrophy, cerebral ataxia).
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Bollimuntha B., Pani B., Singh B.B. Neuronal store-operated Ca2+ signaling: An overview and its function. Adv. Exp. Med. Biol. 2017;993:535–556. - PMC - PubMed
    1. Harrison P.J., Husain S.M., Lee H., De Los Angeles A., Colbourne L., Mould A., Hall N.A.L., Haerty W., Tunbridge E.M. CACNA1C (CaV1.2) and other L-type calcium channels in the pathophysiology and treatment of psychiatric disorders: Advances from functional genomics and pharmacoepidemiology. Neuropharmacology. 2022;220:109262. doi: 10.1016/j.neuropharm.2022.109262. - DOI - PubMed
    1. Zhou X., Wang W., Zhang S., Wang X., Tang Z., Gu J., Li J., Huang J. CACNA1B (Cav2.2) Overexpression and its association with clinicopathologic characteristics and unfavorable prognosis in non-small cell lung cancer. Dis. Markers. 2017;2017:6136401. doi: 10.1155/2017/6136401. - DOI - PMC - PubMed
    1. Correa B.H.M., Moreira C.R., Hildebrand M.E., Vieira L.B. The Role of voltage-gated calcium channels in basal ganglia neurodegenerative disorders. Curr. Neuropharmacol. 2023;21:183–201. doi: 10.2174/1570159X20666220327211156. - DOI - PMC - PubMed
    1. Ortner N.J., Kaserer T., Copeland J.N., Striessnig J. De novo CACAN1D Ca2+ channelopathies: Clinical phenotypes and molecular mechanism. Pflug. Arch. 2020;472:755–773. doi: 10.1007/s00424-020-02418-w. - DOI - PMC - PubMed

Grants and funding

This research received no external funding.

LinkOut - more resources

-