Mitochondrial rRNA and tRNA and hearing function

Xing, Guangqian; Chen, Zhibin; Cao, Xin

doi:10.1038/sj.cr.7310124

Cited by 51 publications

(31 citation statements)

References 102 publications

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“…2 Therefore, many pathological mutations in mitochondrial DNA (mtDNA) have been reported to either cause or be associated with syndromic or nonsyndromic HL. [3][4][5][6] A representative homoplasmic mutation at m.1555A4G in the MT-RNR1 (12S ribosomal RNA) gene causes non-syndromic (isolated) hearing loss (HL) associated with a susceptibility to aminoglycoside antibiotics. [7][8][9] Moreover, it is not uncommon to find the m.1555A4G mutation in HL patients without defined past medication histories of aminoglycoside.…”

Section: Introductionmentioning

confidence: 99%

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2010

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Sensorineural hearing loss (HL) is one of the most frequent clinical features in patients with mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, and hearing is impaired in over half of all cases with mitochondrial disorders. This study analyzed 373 patients with suspected hereditary HL using an extensive and rapid suspension-array screening system for 29 major mtDNA mutations, including the m.1555A4G homoplasmic mutation in the MT-RNR1 gene, which causes non-syndromic sensorineural HL and aminoglycoside-induced HL, and the m.3243A4G heteroplasmic mutation in the MT-TL1 gene. This method is rapid and suitable for large-scale screening because universal 96-well plates are available for use, and because an analysis of each plate can be completed within 1 h. This system detected five different mtDNA mutations in 24 of the 373 (6.4%) patients. The m.1555A4G and m.3243A4G mutations were detected in 11 (2.9%) and 9 (2.7%) patients, respectively. In addition, three mutations, that is, m.8348A4G in the MT-TK gene, m.11778G4A in the MT-ND4 gene and 15498G4A in the MT-CYB gene were detected in one patient for each. This screening system is useful for the genetic diagnosis and epidemiological study of both syndromic and non-syndromic HL.

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Section: Introductionmentioning

confidence: 99%

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2010

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“…However, the use of heteroplasmy to determine disease severity has not been clearly elucidated, and severity of symptoms does not always demonstrate a linear correlation (Chinnery et al, 1997;Xing et al, 2007). The use of peripheral blood has previously been shown to have an inverse relationship with the onset of hearing loss and diabetes; for example, increased heteroplasmy results in an earlier age of symptom onset (Olsson et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

“…Mitochondrial diseases are multisystem disorders with a wide spectrum of severity (Xing et al, 2007). The onset and severity of hearing loss, as well as other symptoms, vary greatly among patients with mitochondrial diseases and may manifest as syndromic or nonsyndromic forms, as seen in aminoglycoside-induced hearing loss (Gold and Rapin, 1994;Hutchin and Cortopassi, 2000;Guan, 2004;Hsu et al, 2005;Liu et al, 2008).…”

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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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“…We summarized the mtDNA mutations detected by the previous and the present analytical systems in Table 3. SNHL is one of the most common disorder in patients with mitochondrial diseases, 10 which is represented by the mutations of the homoplasmic m.1555A4G and the heteroplasmic m.3243A4G. [11][12][13][14][15][16] We previously reported that not only these mutations but also other mutations could be detected in the patients with either nonsyndromic or syndromic hereditary HL.…”

Section: Materials and Methods Patientsmentioning

confidence: 99%

Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

et al. 2012

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Hearing loss (HL) is the most common sensory disorder in humans. Many patients with mitochondrial diseases have sensorineural HL (SNHL). The HL of these patients manifests as a consequence of either syndromic or nonsyndromic mitochondrial diseases. Furthermore, the phenotypes vary among patients even if they are carrying the same mutation. Therefore, these features make it necessary to analyze every presumed mutation in patients with hereditary HL, but the extensive analysis of various mutations is laborious. We analyzed 373 patients with suspected hereditary HL by using an extended suspension-array screening system for major mitochondrial DNA (mtDNA) mutations, which can detect 32 other mtDNA mutations in addition to the previously analyzed 29 mutations. In the present study, we detected 2 different mtDNA mutations among these 373 patients; m.7444G4A in the MT-CO1 gene and m.7472insC in the MT-TS1 gene in 1 patient (0.3%) for each. As these two patients had no clinical features other than HL, they had not been suspected of having mtDNA mutations. This extended screening system together with the previous one is useful for the genetic diagnosis and epidemiological study of both syndromic and nonsyndromic HL.

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Mitochondrial rRNA and tRNA and hearing function

Cited by 51 publications

References 102 publications

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

Audiologic and Genetic Features of the A3243G mtDNA Mutation

Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss

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