ACYP2 is a gene expressed in muscle cells and in the cochlea of the ear that produces proteins which move calcium across the cell membrane. Alterations in this gene may result in damage to the hair cells in the cochlea. Hair cells in the cochlea are important in the hearing process.
A chemotherapy medication called cisplatin can also cause hearing loss in some people via damage to the hair cells of the cochlea. Alterations in the ACYP2 gene may explain why certain people are more likely to develop hearing loss because of cisplatin. This is still an area of active research.
A system designed to classify patients into 2 categories based on their ACYP2 gene status is used to help guide decisions on testing for hearing loss.
Priority ACYP2 phenotype
Increased risk of cisplatin-induced hearing loss – These patients are at very high risk of experiencing permanent hearing loss from cisplatin therapy. More frequent hearing tests may be indicated for people in this group. It is not yet clear that such people should have changes to their cisplatin therapy because of the risk of hearing loss.
Normal risk of cisplatin-induced hearing loss – There is no reason to perform more frequent hearing tests based on the ACYP2 genotype alone. It is important to note that patients in this category can still develop hearing loss from the use of cisplatin.
More information for patients
If you have questions or concerns about pharmacogenomic testing done at St. Jude, you can email the Clinical Pharmacogenomics Program at email@example.com, or call one of the Pharmaceutical Sciences Research Nurses at 901-595-2482. If you are calling from outside of the Memphis area, dial toll free 1-866-2ST-JUDE (1-866-278-5833), then dial extension 2482.
More information for healthcare professionals
Visit ACYP2 (pharmgkb.org)