PG4KDS

Acylphosphatase 2 (ACYP2)

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 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.

Routine phenotype

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 pharmacogenomics@stjude.org, 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.

For health care professionals

Legal Disclaimer: This page is intended to provide implementers with guidance on establishing a clinical pharmacogenetic program at their institution. Information contained on this page is for information and educational purposes only. Although reasonable efforts have been made to ensure that the information provided on this page is current, complete and, where appropriate, based on scientific evidence, St. Jude Children's Research Hospital makes no assurances as to whether the provided information will at all times be current or complete. St. Jude Children's Research Hospital, in offering this document, is not providing medical advice or offering a consultative opinion, and is not establishing a treatment relationship with any given individual. You, therefore, should not substitute information contained herein for your own professional judgment, nor should you rely on information provided herein in rendering a diagnosis or choosing a course of treatment for a particular individual.