Gene-gene interaction of GJB2, SOD2, and CAT on occupational noise-induced hearing loss in Chinese Han population.
Suzhou, China. In Biomed Environ Sci, 2014
In the present study, eight single-nucleotide polymorphisms (SNPs) included rs1227049 and rs3802711 (CDH23), rs1695 (GSTP1), rs137852540 (GJB2), rs2289274 (PMCA2), rs4880 (SOD2), rs7943316, and rs769214 within CAT that might associated with NIHL were further validated in Chinese workers.
Disrupted calcium homeostasis is involved in elevated zinc ion-induced photoreceptor cell death.
Jinan, China. In Arch Biochem Biophys, 2014
In the present study, using zinc chloride (ZnCl2) as a stressor, we investigated the effect of exogenous Zn(2+) in regulating murine photoreceptor cell viability, reactive oxygen species (ROS), cell cycle distribution and calcium homeostasis as well as plasma membrane calcium ATPase (PMCA) isoforms (PMCA1 and PMCA2, i.e., ATP2B1, ATP2B2) expression.
Ca2+ homeostasis defects and hereditary hearing loss.
Padova, Italy. In Biofactors, 2011
Another district where Ca(2+) signaling alterations link to hearing loss is hair cell apex, where ablation or missense mutations of the PMCA2 Ca(2+) -pump of the stereocilia cause deafness and loss of balance.
Modification of human hearing loss by plasma-membrane calcium pump PMCA2.
Rockville, United States. In N Engl J Med, 2005
Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings.