A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

Forlì, Francesca; Bruschini, Luca; Franciosi, Beatrice; Battini, Roberta; Marinella, Gemma; Berrettini, Stefano; Lazzerini, Francesco

doi:10.3390/audiolres11040055

Cited by 6 publications

(7 citation statements)

References 32 publications

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“…CLPP appears to be the most abundant family member in humans (mean abundance about 60 TPM). Its mutations cause the autosomal recessive Perrault syndrome type 3 (PRLTS3), but convey normal life expectancy [ 8 , 14 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 ]. PRLTS is a very rare phenotype, which is defined by primary ovarian insufficiency usually resulting in complete infertility, subsequent sensorineural hearing loss, and often, an age-associated leukodystrophy with prominent ataxia [ 16 , 80 , 81 , 82 ].…”

Section: Genotype–phenotype Correlationmentioning

confidence: 99%

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes

Auburger

Key

Gispert

2022

Cells

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In the matrix of bacteria/mitochondria/chloroplasts, Lon acts as the degradation machine for soluble proteins. In stress periods, however, proteostasis and survival depend on the strongly conserved Clp/Hsp100 family. Currently, the targets of ATP-powered unfoldases/disaggregases ClpB and ClpX and of peptidase ClpP heptameric rings are still unclear. Trapping experiments and proteome profiling in multiple organisms triggered confusion, so we analyzed the consistency of ClpP-trap targets in bacteria. We also provide meta-analyses of protein interactions in humans, to elucidate where Clp family members are enriched. Furthermore, meta-analyses of mouse complexomics are provided. Genotype–phenotype correlations confirmed our concept. Trapping, proteome, and complexome data retrieved consistent coaccumulation of CLPXP with GFM1 and TUFM orthologs. CLPX shows broad interaction selectivity encompassing mitochondrial translation elongation, RNA granules, and nucleoids. CLPB preferentially attaches to mitochondrial RNA granules and translation initiation components; CLPP is enriched with them all and associates with release/recycling factors. Mutations in CLPP cause Perrault syndrome, with phenotypes similar to defects in mtDNA/mtRNA. Thus, we propose that CLPB and CLPXP are crucial to counteract misfolded insoluble protein assemblies that contain nucleotides. This insight is relevant to improve ClpP-modulating drugs that block bacterial growth and for the treatment of human infertility, deafness, and neurodegeneration.

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Section: Genotype–phenotype Correlationmentioning

confidence: 99%

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes

Auburger

Key

Gispert

2022

Cells

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“…In most publications, it was stated that there was a trial period with a conventional hearing aid before cochlear implantation, because this was part of the indications to be considered for a CI in the first place [ 6 , 7 , 8 , 12 , 21 , 29 , 31 , 32 , 33 , 34 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 ] with ANSD. If there was no improvement in speech understanding or language development with these interventions, the children were fitted with a CI.…”

Section: Resultsmentioning

confidence: 99%

“…Apart from this outlier, it is clearly visible in Table 3 that an improvement was achieved with the use of CIs for the ANSD patients. Even though it is a big decision for parents because a CI implantation is an invasive procedure, most papers [ 6 , 7 , 8 , 12 , 22 , 29 , 31 , 32 , 45 , 46 , 47 , 48 , 51 , 53 , 54 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 65 , 66 , 68 , 69 , 71 , 79 ] advocate for a CI for children with ANSD because of the improved speech recognition or sound recognition.…”

Section: Discussionmentioning

confidence: 99%

Systematic Literature Review and Early Benefit of Cochlear Implantation in Two Pediatric Auditory Neuropathy Cases

Keintzel,

Raffelsberger,

Niederwanger

et al. 2023

JPM

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Approximately 1 in 10 children with hearing loss is affected by auditory neuropathy spectrum disorder (ANSD). People who have ANSD usually have great difficulty understanding speech or communicating. However, it is possible for these patients to have audiograms that may indicate profound hearing loss up to normal hearing. This disorder is prognosed with positive, intact or present otoacoustic emissions (OAE) and/or cochlear microphonics (CM) as well as abnormal or absent auditory brainstem responses (ABR). Treatment methods include conventional hearing aids as well as cochlear implants. Cochlear implants (CI) usually promise better speech understanding for ANSD patients. We performed a systematic literature review aiming to show what improvements can effectively be achieved with cochlear implants in children with ANSD and compare this with our experience with two cases of ANSD implanted at our clinic. The retrospective review of two young CI patients diagnosed with ANSD during infancy demonstrated improvements over time in speech development communicated by their parents.

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“…ClpP appears to be the most abundant family member in humans (mean abundance about 60 TPM). Its mutations cause the autosomal recessive Perrault syndrome type 3 (PRLTS3), but convey normal life expectancy [8,[68][69][70][71][72][73][74][75][76]. PRLTS is a very rare phenotype, which is defined by primary ovarian insufficiency usually resulting in complete infertility, subsequent sensorineural hearing loss, and often an age-associated leukodystrophy with prominent ataxia [77][78][79][80].…”

Section: Genotype-phenotype Correlationmentioning

confidence: 99%

The Bacterial ClpXP-ClpB Family is Enriched with RNA-Binding Protein Complexes

Auburger¹,

Key²,

Gispert³

2022

Preprint

View full text Add to dashboard Cite

In the matrix of bacteria/mitochondria/chloroplasts, Lon acts as the degradation machine for soluble proteins. In stress periods, however, proteostasis and survival depend on the strongly conserved Clp/Hsp100 family. Currently, the targets of ATP-powered unfoldases/disaggregases ClpB and ClpX, and of peptidase ClpP heptameric rings, are still unclear. Trapping experiments and proteome profiling in multiple organisms triggered confusion, so we analyzed the consistency of ClpP-trap targets in bacteria. We also provide meta-analyses of protein interactions in humans, to elucidate where Clp family members are enriched. Furthermore, meta-analyses of mouse complexomics are provided. Genotype-phenotype correlations confirmed our concept. Trapping, proteome, and complexome data retrieved consistent coaccumulation of ClpXP with GFM1 and TUFM orthologs. ClpX shows broad interaction selectivity encompassing mitochondrial translation elongation, RNA granule, and nucleoid; ClpB preferentially attaches to mitochondrial RNA granule and translation initiation components; ClpP is enriched with them all, and associates with release/recycling factors. Mutations in ClpP cause Perrault syndrome, with phenotypes similar to defects in mtDNA/mtRNA. Thus, we propose that ClpB and ClpXP are crucial to counteract misfolded insoluble protein assemblies that contain nucleotide-phosphates. This insight is relevant to improve ClpP-modulating drugs that block bacterial growth, and for the treatment of human infertility, deafness and neurodegeneration.

show abstract

A Rare Case of Perrault Syndrome with Auditory Neuropathy Spectrum Disorder: Cochlear Implantation Treatment and Literature Review

Cited by 6 publications

References 32 publications

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes

The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes

Systematic Literature Review and Early Benefit of Cochlear Implantation in Two Pediatric Auditory Neuropathy Cases

The Bacterial ClpXP-ClpB Family is Enriched with RNA-Binding Protein Complexes

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