Identification of New Polymorphisms in the CACNA1S Gene

Carsana, Antonella; Fortunato, Giuliana; Sarno, Claudia De; Brancadoro, Virginia; Salvatore, Francesco

doi:10.1515/cclm.2003.004

Cited by 6 publications

(2 citation statements)

References 7 publications

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“…Cells from CCR5Δ32 heterozygous individuals also show reduced virus entry and infection (45). Human VGCC genes are polymorphic, and there are likely differences in receptor levels among different individuals (47,48). Indeed, mutations in human CACNA1S and CACNA2D2 genes have been linked to several syndromes, and we found that cells from individuals heterozygous for an A1S missense mutation were also less infected by JUNV-C1 (49)(50)(51).…”

Section: Discussionmentioning

confidence: 56%

CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

Sarute

Ross

2020

Proc. Natl. Acad. Sci. U.S.A.

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Understanding the genetics of susceptibility to infectious agents is of great importance to our ability to combat disease. Here, we show that voltage-gated calcium channels (VGCCs) are critical for cellular binding and entry of the New World arenaviruses Junín and Tacaribe virus, suggesting that zoonosis via these receptors could occur. Moreover, we demonstrate that α1s haploinsufficiency renders cells and mice more resistant to infection by these viruses. In addition to being more resistant to infection, haploinsufficient cells and mice required a lower dosage of VGCC antagonists to block infection. These studies underscore the importance of genetic variation in susceptibility to both viruses and pharmaceutics.

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Section: Discussionmentioning

confidence: 56%

CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

Sarute

Ross

2020

Proc. Natl. Acad. Sci. U.S.A.

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“…The CACNA1S or CACNL1A3, encoding the α1-subunit of the DHPR, is at 1q32 [28]. Polymorphisms and potential mutations have been identified in this gene [30]. In one family, the Arg528His amino acid substitution in the α1-subunit of the DHPR encoded by CACNA1S produced a severe form of hypokalemic periodic paralysis.…”

Section: Other Loci Possibly Associated With Mhmentioning

confidence: 99%

Genetics of Malignant Hyperthermia

Brandom

2006

The Scientific World JOURNAL

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Study of the genetics of the malignant hyperthermia syndrome began in families in which both malignant hyperthermia (MH) episodes had been experienced and individuals had strongly positive contracture tests diagnostic of susceptibility to MH. Linkage studies associated this MH phenotype to the ryanodine receptor gene (RYR1) at chromosome 19q13.1 in many families. Although the MH phenotype is not always linked to chromosome 19, the RYR1 has remained the focus of experimentation. Other candidate genes exist, but few MH-susceptible families have variants of these genes. Hundreds of MH-susceptible people have variants of RYR1.

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Gene analysis of the calcium channel 1 subunit and clinical studies for two patients with hypokalemic periodic paralysis

Kageyama

Terui

Tsutaya

et al. 2006

J Endocrinol Invest

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Hypokalemic periodic paralysis (HypoPP) is a skeletal muscle disorder in which episodic attacks of muscle weakness occur; they are associated with decreased serum potassium (K+) levels. Recent molecular approaches have clarified that the condition is caused by mutations in the skeletal muscle voltage-gated calcium channel 1 subunit (CACNA1S). We describe two unrelated patients with HypoPP, followed by their relevant clinical studies and gene analysis. Clinical studies included an oral glucose tolerance test (OGTT), food-loading and insulin tolerance tests (ITT). For Case 1, serum K+ levels were extremely decreased following insulin tolerance testing compared with levels for controls. These results support the hypothesis that no efflux of K+ ion occurs in patients because of low activity of adenosine triphosphate (ATP)-sensitive K+ channel (KATP) channels. Mutational analysis of the CACNA1S gene showed a duplicate insertion of 14 base pairs (bp) from 52 to 65 in intron 26, present in the heterozygous state in both patients. No other mutations were detected in the CACNA1S gene, the muscle sodium channel gene (SCN4A) or the voltage-gated K+ channel gene (KCN3) of either patient. Further analysis showed that this duplicate insertion of 14 bp in intron 26 of the CACNA1S gene was found in 23.7% of healthy subjects. K+ dynamics studies are useful for confirming this syndrome, while further gene analysis for various ion channels using amplification and direct sequencing are required to evaluate the molecular basis of the disorder in the individual patient.

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Identification of New Polymorphisms in the CACNA1S Gene

Cited by 6 publications

References 7 publications

CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

CACNA1S haploinsufficiency confers resistance to New World arenavirus infection

Genetics of Malignant Hyperthermia

Gene analysis of the calcium channel 1 subunit and clinical studies for two patients with hypokalemic periodic paralysis

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