Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2

This study implicates a variant of a gene encoding PMCA2, a plasma-membrane calcium pump, in the degree of severity of hearing loss caused by the mutation of another gene. The findings suggest that the mutant PMCA2 allele, which is carried by approximately 3 to 5 percent of persons of European descent, is a risk factor for presbycusis and noise-induced hearing loss. Studies to investigate this possibility are warranted. The findings suggest that the mutant PMCA2 allele, which is carried by approximately 3 to 5 percent of persons of European descent, is a risk factor for presbycusis and noise-induced hearing loss. Approximately 1 in 1000 children is born with functionally significant sensorineural hearing loss, and another 1 in 1000 will have sensorineural hearing loss by nine years of age. 1 At least half these cases have a genetic cause. There are hundreds of genes in which mutations cause sensorineural hearing loss either as the sole clinical feature or in combination with extra-auditory manifestations as part of a syndrome. 2 Some genes underlie both syndromic and nonsyndromic forms of sensorineural hearing loss: for example, recessive mutations in CDH23 cause either the Usher syndrome (retinitis pigmentosa and sensorineural hearing loss) or nonsyndromic sensorineural hearing loss. . . .