Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics

Nagata, Hiroshi; Kumahara, Keiichiro; Tomemori, Takuya; Arimoto, Yukiko; Isoyama, Kyoko; Yoshida, Koh; Konno, Akiyoshi

doi:10.1007/s100380170027

Cited by 15 publications

(10 citation statements)

References 20 publications

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“…We have tested at the same time for another mtDNA mutation, A3243G, in the tRNA Leu gene, which has been reported to be associated also with sensorineural deafness in significant prevalence, especially in syndromic cases with DM Nagata et al 2001). However, this mutation was not found in the total of 125 sensorineural deafness patients (groups I and II) examined or in the control group.…”

Section: Resultsmentioning

confidence: 99%

“…The A3243G mutation was detected by a similar PCR-RFLP procedure, involving the amplification of a 903-bp fragment of the mtDNA with the primer pair L2826 and H3728, and the detection of the mutation as a gain of an ApaI restriction site (Lertrit et al 1992) (Lee et al 1997). The prevalence of this mutation in sensorineural deafness patients in Japan is 1.7% (Nagata et al 2001), and as high as 50-60% of diabetic patients with sensorineural deafness Nagata et al 2001). Thus, it seems that there is an ethnic-related variation in the prevalence of this mutation, presumably influenced by the overall mitochondrial genetic background.…”

Section: Discussionmentioning

confidence: 99%

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Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

et al. 2003

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A mtDNA A1555G base substitution in a highly conserved region of the 12S rRNA gene has been reported to be the main cause of aminoglycoside induced deafness. This mutation is found in approximately 3% of Japanese and 0.5-2.4% of European sensorineural deafness patients. We report a high prevalence (5.3%) of the A1555G mutation in sensorineural deafness patients in Sulawesi (Indonesia). Our result confirms the importance of determining the prevalence of the mtDNA A1555G mutation in different populations, and the need for mutation detection before the administration of aminoglycoside antibiotics.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

et al. 2003

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“…Previous reports suggest that patients with sensorineural hearing loss due to the A3243G mutation have onset hearing impairment from the 20s to the 50s (Chinnery et al, 2000a;Nagata et al, 2001). The youngest patients (386-204, 386-205, 386-206) in the present study had a normal hearing test at 19, 15, and 14 years of age, respectively, and were not analyzed for the A3243G mutation.…”

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confidence: 66%

“…This suggests that individuals with the 3243A > G mtDNA mutation could be markedly under-recognized. The frequency of the A3243G mutation was 0.5% and 1.7% in the United Kingdom and Japanese patients with nonsyndromic hearing loss (NSHL), respectively (Hutchin et al, 2001;Nagata et al, 2001). Only 0.1% of Iranian NSHL patients harbored the 3243A > G mutation (Montazer Zohour et al, 2012).…”

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confidence: 99%

Audiologic and Genetic Features of the A3243G mtDNA Mutation

Vivero

Ouyang

Kim

et al. 2013

Genetic Testing and Molecular Biomarkers

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Background: Mitochondrial mutations have been shown to be responsible for syndromic and nonsyndromic hearing impairment. Aim: To assess the genotypic-phenotypic correlation of mitochondrial DNA mutations in three generations of a single family. Methods: A single family with maternally inherited diabetes and hearing loss was recruited. Genomic DNA was subject to polymerase chain reaction-restriction fragment length polymorphism analysis (ApaI) for A3243G mutation detection and confirmation with direct DNA sequencing. The degree of heteroplasmy for the A3243G mutation in blood DNA samples was quantified. In addition, we reviewed audiological data of A3243G-associated hearing loss cases from the literature to provide details of audiologic features. Results: Six of 11 family members were recruited. All affected members harbored the A3243G mutation. Four of six members had diabetes. Five of five affected members demonstrated hearing loss ranging from mild to severe. The degree of heteroplasmy ranged from 5.51% to 27.74%. Conclusions: Patients with a greater percentage of heteroplasmy have a trend toward more severe phenotypic presentations. Hearing loss is bilateral, sensorineural, and symmetric. The main audiogram shapes found were sloping. Additional studies are necessary to clarify the relationship between degree of heteroplasmy and phenotypic presentation.

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“…The prevalence of A3243G mutation has been investigated in different countries with different study design. Eight studies have previously screened patients with sensoneural hearing loss, epilepsy, juvenile stroke syndromes, myopathy and ataxia for the A3243G mtDNA substitution and revealed this mutation in 0.07% to 6.5% of their patients [4][5][6][7][8][9][10][11]. The highest frequency has been observed in the Finnish population where the prevalence was calculated to be 16.3:100.000 in the adult population of the investigated area [5].…”

Section: Introductionmentioning

confidence: 99%

Analysis of mtDNA A3243G mutation frequency in Hungary

et al. 2010

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AbstractThe A3243G mutation in the mitochondrial tRNALeu (UUR) gene is one of the most common causes of mitochondrial DNA related disorders. Originally it was described in MELAS syndrome (Mitochondrial Encephalomyopathy, Lactic acidosis, Stroke-like episodes), later it had been found to be associated with various phenotypes. In our study the mutation frequency of the A3243G mtDNA mutation was investigated in patients with maternal sensoneural hearing loss, stroke-like episodes, ataxia and myopathy with undetermined etiology. We screened 631 Hungarian patients in North-East, South-West and Central Hungary between 1999 and 2008 for this mutation. The mtDNA analysis was performed from blood and/or muscle tissue. The A3243G substitution was present in 6 patients in heteroplasmic form. The segregation analysis detected 8 further cases. The frequency of the A3243G mutation was 2.22% in the investigated patients. The A3243G mutation frequency in Hungary does not differ significantly from other countries using similar patient selection criteria, however in Finland a higher mutation rate was found. In studies investigated the mutation frequency of this mutation in diabetes mellitus similarly wide variety was detected as well. We conclude that the study design has a huge impact on the result of the genetic epidemiological investigation analyzing the mutation frequency of the A3243G mutation due to the broad clinical phenotype and the different mutation load in different tissues.

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Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics

Cited by 15 publications

References 20 publications

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

Audiologic and Genetic Features of the A3243G mtDNA Mutation

Analysis of mtDNA A3243G mutation frequency in Hungary

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