scholarly journals Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment

2000 ◽  
Vol 8 (4) ◽  
pp. 315-318 ◽  
Author(s):  
Mervi S Lehtonen ◽  
Seija Uimonen ◽  
Ilmo E Hassinen ◽  
Kari Majamaa
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Point Mutations ◽  
Sensorineural Hearing ◽  
Sensorineural Hearing Impairment

scholarly journals Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

2008 ◽  
Vol 28 (1) ◽  
pp. 49-59 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Forli ◽  
Susanna Passetti ◽  
Anna Rocchi ◽  
Luca Pollina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Pathological Study ◽  
Mtdna Mutations ◽  
A1555g Mutation ◽  
Sensorineural Hearing Impairment

Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

scholarly journals MTHFR 677T Is a Strong Determinant of the Degree of Hearing Loss Among Polish Males with Postlingual Sensorineural Hearing Impairment

2012 ◽  
Vol 31 (7) ◽  
pp. 1267-1273 ◽  
Author(s):  
Agnieszka Pollak ◽  
Malgorzata Mueller-Malesinska ◽  
Urszula Lechowicz ◽  
Agata Skorka ◽  
Lech Korniszewski ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Sensorineural Hearing Impairment

scholarly journals Consumption of betel quid contributes to sensorineural hearing impairment through arecoline-induced oxidative stress

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Yen-Hui Chan ◽  
Tien-Chen Liu ◽  
Chun-Kang Liao ◽  
Yen-Fu Cheng ◽  
Ching-Hui Tsai ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Hearing Impairment ◽  
Ex Vivo ◽  
Cell Activity ◽  
Reproductive Organs ◽  
Sensorineural Hearing ◽  
Betel Quid ◽  
Tissue Explants ◽  
Sensorineural Hearing Impairment ◽  
Z Scores

Abstract Betel quid is one of the most widely used psychoactive substances, and is consumed by approximately 10% of the world’s population. In addition to its carcinogenicity, betel quid has also been reported to affect many organs, including the brain, heart, lungs, gastrointestinal tract, and reproductive organs. As betel quid contains several neurotoxic ingredients, we hypothesize that it also possesses ototoxicity and may lead to sensorineural hearing impairment (SNHI). In this study, we investigated the contribution of betel quid consumption to SNHI in a large clinical cohort, and validated the pathogenetic mechanisms in ex vivo tissue explants. We enrolled a total of 2364 volunteers, and determined their audiologic results based on Z-scores converted from their original frequency-specific hearing thresholds. Using generalized linear regression, we identified a positive correlation between betel quid consumption and the Z-scores across different frequencies. Subsequently, we explored the toxicity of arecoline, the main neuroactive component of betel quid, on tissue explants from murine cochleae. Arecoline reduced cell activity in the explant cultures and induced apoptosis in the hair cells, probably through the effects of oxidative stress. These findings have expanded the potential hazards of betel quid to common neurological disorders, and provide insights into preventive strategies against SNHI caused by neurotoxic substances.

Sign in / Sign up

Export Citation Format

Share Document