Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0264733 (
ventricular dilatation
)
2,163
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in gene SCN5A, which encodes cardiac
voltage-gated sodium channel
Na
v
1.5, are associated with multiple clinical phenotypes. Here we describe a novel A1294G genetic variant detected in a male patient with combined clinical phenotype including atrioventricular II block, Brugada-like ECG, septal fibrosis, right
ventricular dilatation
and decreased left ventricular contractility. Residue A1294 is located in the IIIS3-S4 extracellular loop, in proximity to several residues whose mutations are associated with sodium channelopathies. The wild-type channel Na
v
1.5 and mutant Na
v
1.5-A1294G were expressed in the CHO-K1 and HEK293T cells and whole-cell sodium currents were recorded using the patch-clamp method. The A1294G channels demonstrated a negative shift of steady-state inactivation, accelerated fast and slow inactivation and decelerated recovery from intermediate inactivation. Our study reveals biophysical mechanism of the Na
v
1.5-A1294G dysfunction, which may underlie the combined phenotypic manifestation observed in the patient.
...
PMID:Characterization of a novel SCN5A genetic variant A1294G associated with mixed clinical phenotype. 3125 2
