Mutational analysis of CACNA1G
in idiopathic generalized epilepsy.
In the current study, we detected the mRNA of the three isoforms of the T-type calcium channel CACNA1G
(T-type [Ca.sup.2+] channel, Cav3.1), CACNA1H (T-type [Ca.sup.2+] channel, Cav3.2), and CACNA1I (T-type [Ca.sup.2+] channel, Cav3.3).
Expression of Cacna1d (3-fold), Cacna1g, Cacna1h (4-fold), Cacna2d1, Cacna2d3, and Cacng4 (3-fold) were downregulated in GK compared to control SAN.
Cacna1g ([Ca.sub.v]3.1) and Cacna 1h ([Ca.sub.v]3.2) encode pore-forming alpha(1) subunits of the T-type [Ca.sup.2+] channel in cardiac muscle .
Monteil et al., "A recurrent mutation in CACNA1G
alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia," American Journal of Human Genetics, vol.
At least four loci can serve as sensitive and specific markers for CIMP-high, these include RUNX3, CACNA1G
, IGF2, and MLH1 .
The research team has discovered a variant of a gene called CACNA1G that, according to the researchers, that makes boys four times more likely to develop autism, than girls.
"No one has scrutinized the role that CACNA1G plays in autism.
They scoured the DNA of 1,046 members of families with at least two sons affected by autism for common gene variants and identified genetic markers to CACNA1G, which helps move calcium between the cells.
We added 11 markers [GATA3, GATA binding protein 3; GDNF, glial cell derived neurotrophic factor; OPCML, opioid binding protein/cell adhesion molecule-like; PENK, proenkephalin; TFAP2A, transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha); APP, amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease); CACNA1G
, calcium channel, voltage-dependent, T type, alpha 1G subunit; HOXA1, homeobox A1; NEUROG1, neurogenin 1; APBA2, amyloid beta (A4) precursor protein-binding, family A, member 2; and TRRAP, transformation/transcription domain-associated protein on the basis of a study that indicated increased methylated DNA in CRC tissue (19).
For example, clinical studies have demonstrated overexpression of CACNA1D ([Ca.sub.v]1.3) (L type), CACNA1A ([Ca.sub.v]2.1) (P/Q type), and CACNA1G
([Ca.sub.v]3.1) (T type) in lung cancer, and overexpression of CACNA1A ([Ca.sub.v]2.1) was associated with poor prognosis .
The [[alpha].sub.1] subunit isoforms include A, B, C, D, E, and G, encoded by CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, and CACNA1G