Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

Zhu, Yuan Xiao; Qian, Yaping; Tang, Xiaowen; Wang, Jindan; Yang, Li; Liao, Zhisu; Li, Ronghua; Ji, Jinzhang; Li, Zhiyuan; Chen, Jianfu; Choo, Daniel I.; Lü, Jianxin; Guan, Min‐Xin

doi:10.1016/j.bbrc.2006.02.027

Cited by 38 publications

(27 citation statements)

References 40 publications

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“…This mutation was implicated to be associated with nonsyndromic SNHL [55] or to influence the phenotypic expression of hearing loss associated with the A1555G mutation [56]. The pathogenicity was supported by a recent observation of two Chinese families with aminoglycosideinduced and nonsyndromic SNHL, in which the homoplasmic G7444A mutation was present only in the maternal lineage but not in other members of these pedigrees and 164 Chinese controls [57]. The G7444A mutation is adjacent to the 3′ end endonucleolytic processing site of the L-strand RNA precursor, spanning tRNA Ser(UCN) , and ND6 mRNA.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 84%

“…In the mitochondrial tRNA Ser(UCN) gene, five nonsyndromic deafness-associated mutations, A7445G [42][43][44], 7472insC [45][46][47], T7510C [48,84], T7511C [49][50][51][52][53], and G7444A [55][56][57], have been found in families from various ethnic backgrounds. These mutations often occur in homoplasmy or in high levels of heteroplasmy, indicating a high threshold for pathogenicity.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

“…The G7444A mutation is adjacent to the 3′ end endonucleolytic processing site of the L-strand RNA precursor, spanning tRNA Ser(UCN) , and ND6 mRNA. Thus, the G7444A mutation, similar to the A7445G mutation, may also cause a defect in the processing of the L- [57]. However, a functional analysis seems necessary to confirm the speculation and to determine if this mutation is sensitive to aminoglycosides.…”

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

“…Recently, the G7444A mutation in the tRNA Ser(UCN) gene has been described in two Chinese families with aminoglycosideinduced hearing loss [57]; however, its pathogenicity has not been established.…”

Section: Mtdna Mutations and Aminoglycoside Ototoxicitymentioning

confidence: 99%

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Mitochondrial rRNA and tRNA and hearing function

2007

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The human ear is a delicate sensory apparatus of hearing for normal communication, and its proper functioning is highly dependent on mitochondrial oxidative phosphorylation. The first mitochondrial point mutation for nonsyndromic and aminoglycoside-induced hearing loss was identified in 1993. Since then a number of inherited mitochondrial mutations have been implicated in hearing loss. Most of the molecular defects responsible for mitochondrial disorder-associated hearing loss are mutations in the 12S rRNA gene and tRNA genes. In this review, after a short description of normal hearing mechanisms and mitochondrial genetics, we outline the recent advances that have been made in the identification of deafness-associated mitochondrial mutations, and discuss how mitochondrial dysfunction contributes to hearing loss.

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Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 84%

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

Section: Mitochondrial Trna Mutations Associated With Nonsyndromic Hementioning

confidence: 99%

Section: Mtdna Mutations and Aminoglycoside Ototoxicitymentioning

confidence: 99%

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Mitochondrial rRNA and tRNA and hearing function

2007

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“…35 A GREEK FAMILY WITH THE GJB2 35delG AND G7444A mtDNA MUTATIONS We recently identified a Greek family (unpublished data) harboring the rare G7444A mtDNA variant, previously associated with nonsyndromic hearing loss. [16][17][18][19][20][21][22][23][24] Two siblings and their mother with the G7444A mtDNA mutation were heterozygous for the GJB2 35delG mutation. Although the proband presented with mild/moderate hearing impairment (XIII, Table 1), his brother and mother had normal levels of hearing.…”

Section: Coexistence Of the Gjb2 235delc And The A1555g Mtdna Mutatiomentioning

confidence: 99%

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

et al. 2010

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Hearing impairment is a frequent condition, and genes have an important role in its etiology. The majority of hearing loss occurs in non-syndromic form, with deafness being the only clinically recognizable feature. More than 60 nuclear genes or loci have been shown to be involved in non-syndromic hearing loss, but mutations in mitochondrial DNA also cause hearing impairment. Mitochondrial DNA mutations usually lead to progressive hearing loss with an age of onset varying from childhood to early adulthood. It is interesting to note that there is a great variability among phenotypes between individuals harboring the same mitochondrial mutation, even within the same family, and the phenotype may range from profound deafness to completely normal hearing. In the past years, the debate on mitochondrial mutations has been about the penetrance, the tissue specificity and the mechanisms of modifier genes that can modulate the severity of the phenotypic expression of the deafness-associated mitochondrial DNA mutations. Here we summarize evidence regarding modifying genes, and we discuss the effect of the coexistence of mitochondrial and GJB2 mutations in families reported to date.

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Aminoglycosides

Gilbert¹,

Leggett²

2010

Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases

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Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

Cited by 38 publications

References 40 publications

Mitochondrial rRNA and tRNA and hearing function

Mitochondrial rRNA and tRNA and hearing function

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Aminoglycosides

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