ArticleJournal of the Association for Research in Otolaryngology : JARO2014
Hearing loss is an early consequence of Npc1 gene deletion in the mouse model of Niemann-Pick disease, type C.
Article in Journal of the Association for Research in Otolaryngology : JARO, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 22 citations in OpenAlex.
- HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.eLife · 2026Article
- Extracellular vesicles in Niemann pick disease type C: current knowledge and future opportunities.Frontiers in cellular neuroscience · 2025Review
- Impact of cholesterol homeostasis within cochlear cells on auditory development and hearing loss.Frontiers in cellular neuroscience · 2023Review
- Kiaa1024L/Minar2 is essential for hearing by regulating cholesterol distribution in hair bundles.eLife · 2022Article
- Effect of Selective Carboplatin-Induced Inner Hair Cell Loss on Temporal Integration in Chinchillas.Journal of the Association for Research in Otolaryngology : JARO · 2022Article
- NPC1 Deficiency Contributes to Autophagy-Dependent Ferritinophagy in HEI-OC1 Auditory Cells.Frontiers in molecular biosciences · 2022Article
- Gender-Specific Effects of Two Treatment Strategies in a Mouse Model of Niemann-Pick Disease Type C1.International journal of molecular sciences · 2021Article
- Audiogenic Seizures in theThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Current Challenges in Understanding the Cellular and Molecular Mechanisms in Niemann-Pick Disease Type C1.International journal of molecular sciences · 2019Review
- Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.Orphanet journal of rare diseases · 2018Article
- The susceptibility of cochlear outer hair cells to cyclodextrin is not related to their electromotile activity.Acta neuropathologica communications · 2018Article
- Olfactory Performance as an Indicator for Protective Treatment Effects in an Animal Model of Neurodegeneration.Frontiers in integrative neuroscience · 2018Article
- Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Visual evoked potentials of Niemann-Pick type C1 mice reveal an impairment of the visual pathway that is rescued by 2-hydroxypropyl-ß-cyclodextrin.Orphanet journal of rare diseases · 2015Article
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12 authors at 5 institutions in 1 country.
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Abstract
Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal lipidosis that is most often the result of biallelic mutations in NPC1, and is characterized by a fatal neurological degeneration. The pathophysiology is complex, and the natural history of the disease is poorly understood. Recent findings from patients with NPC1 and hearing loss suggest that multiple steps along the auditory pathway are affected. The current study was undertaken to determine the auditory phenotype in the Npc1 (nih) mutant mouse model, to extend analyses to histologic evaluation of the inner ear, and to compare our findings to those reported from human patients. Auditory testing revealed a progressive high-frequency hearing loss in Npc1 (-/-) mice that is present as early as postnatal day 20 (P20), well before the onset of overt neurological symptoms, with evidence of abnormalities involving the cochlea, auditory nerve, and brainstem auditory centers. Distortion product otoacoustic emission amplitude and auditory brainstem response latency data provided evidence for a disruption in maturational development of the auditory system in Npc1 (-/-) mice. Anatomical study demonstrated accumulation of lysosomes in neurons, hair cells, and supporting cells of the inner ear in P30 Npc1 (-/-) mice, as well as increased numbers of inclusion bodies, myelin figures, and swollen nerve endings in older (P50-P70) mutant animals. These findings add unique perspective to the pathophysiology of NPC disease and suggest that hearing loss is an early and sensitive marker of disease progression.
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