Research highlight

Risk variant for treatment induced hearing loss

Nature Genetics

February 10, 2015

An association between variants in the gene ACYP2 and hearing loss in children after treatment with the drug cisplatin is reported in a study published online this week in Nature Genetics. The results may help doctors decide when to use the drug cisplatin to treat pediatric brain tumors.

Cisplatin is an anti-cancer agent widely used in the treatment of many cancers, including childhood brain tumors. Though cisplatin is very effective, it can lead to ototoxicity - or hearing damage - particularly in juvenile patients. The reason why some children experience this negative effect while others do not is unknown.

Jun Yang and colleagues carried out a genetic association study with 238 children with brain tumors who were treated with cisplatin, 145 of which developed ototoxicity. They found a strong association between variants in the gene ACYP2 and ototoxicity. This association was confirmed in an independent group of 68 children treated with cisplatin for brain tumors. ACYP2 encodes a protein that is expressed in muscle and the cochlea (an inner ear structure) and may be important for normal hair cell development in the ear. All children who carried the risk variant of ACYP2 developed ototoxicity. However, the authors also discovered that a number of children without this risk variant also developed ototoxicity and the reason for this remains unknown.

doi: 10.1038/ng.3217

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