Hearing Loss and PRPS1 Mutations: Wide Spectrum of Phenotypes and Potential Therapy

Overview

Journal Int J Audiol

Publisher Informa Healthcare

Specialty Otorhinolaryngology

Date 2012 Nov 30

PMID 23190330

Citations 17

Authors

Xue Zhong Liu

Dinghua Xie

Hui Jun Yuan

Arjan P M de Brouwer

John Christodoulou

Denise Yan

Affiliations

Soon will be listed here.

Abstract

Objective: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function.

Design: A literature search of peer-reviewed, published journal articles was conducted in online bibliographic databases.

Study Sample: Three databases for medical research were included in this review.

Results: Mutations in PRPS1 are associated with a spectrum of non-syndromic to syndromic hearing loss. Hearing loss in male patients with PRPS1 mutations is bilateral, moderate to profound, and can be prelingual or postlingual, progressive or non-progressive. Audiogram shapes associated with PRPS1 deafness are usually residual and flat. Female carriers can have unilateral or bilateral hearing impairment. Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).

Conclusions: Lower residual activity in PRS-I leads to a more severe clinical manifestation. Clinical and molecular findings suggest that the four PRPS1 disorders discovered to date belong to the same disease spectrum. Dietary supplementation with S-adenosylmethionine (SAM) appeared to alleviate the symptoms of Arts syndrome patients, suggesting that SAM could compensate for PRS-I deficiency.

Citing Articles

Prevalence and risk factors of hearing loss in the Chinese population aged 45 years and older: Findings from the CHARLS baseline survey.

Xu X, Sun G, Sun D PLoS One. 2024; 19(9):e0310953.

PMID: 39312568 PMC: 11419390. DOI: 10.1371/journal.pone.0310953.

S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review.

Lee A, Knox R, Reynolds M, McRoy E, Nguyen H JIMD Rep. 2023; 64(6):417-423.

PMID: 37927483 PMC: 10623096. DOI: 10.1002/jmd2.12395.

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.

Stajer K, Kovac N, Sikonja J, Mlinaric M, Bertok S, Brecelj J Mol Genet Metab Rep. 2023; 36:100986.

PMID: 37670898 PMC: 10475845. DOI: 10.1016/j.ymgmr.2023.100986.

Contribution of Model Organisms to Investigating the Far-Reaching Consequences of PRPP Metabolism on Human Health and Well-Being.

Ugbogu E, Schweizer L, Schweizer M Cells. 2022; 11(12).

PMID: 35741038 PMC: 9221600. DOI: 10.3390/cells11121909.

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).

Lenherr N, Christodoulou J, Duley J, Dobritzsch D, Fairbanks L, Datta A Mol Genet Metab Rep. 2021; 26:100709.

PMID: 33532242 PMC: 7823043. DOI: 10.1016/j.ymgmr.2021.100709.

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