The Role of Mitochondrial DNA Mutations in Hearing Loss

Ding, Yu; Leng, Jinhua; Fan, Fan; Xia, Bo‐Hou; Xu, Pan

doi:10.1007/s10528-013-9589-6

Cited by 58 publications

(44 citation statements)

References 85 publications

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“…These results suggest that the clinical criteria adopted in this study are helpful for selection of candidate patients with a high probability of carrying mtDNA mutations. No known pathogenic mutations, or unknown variants, were detected in the remaining mitochondrial rRNA and tRNA genes, including MTTK , MTTH , MTTS2 , and MTTE , consistent with a previous report that MTTS1 is the third most frequent mtDNA region (after m.1555A > G in MTRNR1 and m.3243A > G in MTTL1 ) where mutations affecting auditory function occur [12]. …”

Section: Discussionsupporting

confidence: 89%

Mitochondrial mutations in maternally inherited hearing loss

et al. 2017

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BackgroundAlthough the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL.MethodsScreening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL. Sequencing of additional mtDNA regions was performed for five subjects meeting the clinical criteria, but the screening results were negative.ResultsAmong the nine cases meeting the five clinical criteria detailed above, three had the m.1555A > G mutation in MTRNR1, one had a m.3243A > G mutation in MTTL1, and one case had a m.7511T > C mutation in MTTS1. In the family with the m.7511T > C mutation, penetrance of SNHL among maternally related subjects was 9/17 (53%). The age at onset varied from birth (congenital) to adulthood. Hearing levels varied from normal to moderately impaired, unlike previously reported subjects with this mutation, where some maternal family members presented with profound SNHL. Family members with the m.7511T > C mutation and SNHL did not exhibit any specific clinical characteristics distinct from those of other individuals with SNHL and different mtDNA mutations. Among the 136 probands who did not meet the criteria detailed above, one case had the m.1555A > G mutation, and three cases had the m.3243A > G mutation.ConclusionsSince five of nine probands with the clinical criteria used in this study had mtDNA mutations, these criteria may be helpful for identification of candidate patients likely to have mtDNA mutations.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-017-0389-4) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 89%

Mitochondrial mutations in maternally inherited hearing loss

et al. 2017

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“…Reinforcing this association, mutations in the mitochondrial genome have been linked to susceptibility to aminoglycoside-induced hearing loss 37 .…”

Section: Apoptosismentioning

confidence: 91%

New treatment options for hearing loss

Müller

Barr-Gillespie

2015

Nat Rev Drug Discov

167

132

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Hearing loss is the most common form of sensory impairment in humans and affects more than 40 million people in the United States alone. No drug-based therapy has been approved by the Food and Drug Administration, and treatment mostly relies on devices such as hearing aids and cochlear implants. Over recent years, more than 100 genetic loci have been linked to hearing loss and many of the affected genes have been identified. This understanding of the genetic pathways that regulate auditory function has revealed new targets for pharmacological treatment of the disease. Moreover, approaches that are based on stem cells and gene therapy, which may have the potential to restore or maintain auditory function, are beginning to emerge.

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“…6,14,15 Leukonychia, knuckle pads, pseudoainhum and spontaneous amputations are absent ( Table 2). Palmoplantar keratoderma with deafness due to MTTS1 gene mutation This form of PPK with deafness is maternally inherited as it is caused by a mutation in the mitochondrial MTTS1 gene 16,17 (Table S1), encoding the mitochondrial tRNA for serine (UCN). 8,[18][19][20] PPKs may develop from childhood to adolescence and may be diffuse or focal, showing an honeycomb appearance.…”

Section: Syndromic Palmoplantar Keratodermasmentioning

confidence: 99%

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

Guerra

Castori²,

Didona

et al. 2018

Acad Dermatol Venereol

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Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development. Other genetic diseases, which may show palmoplantar involvement, such as selected subtypes of hereditary epidermolysis bullosa, various hereditary ichthyoses and other keratinization disorders, several ectodermal dysplasias and some multisystem genetic disorders, are also briefly summarized. PPK diagnosis is based on inheritance pattern, age at onset, morphology, distribution and severity of hyperkeratosis, pattern of additional dermatological and systemic manifestations and laboratory findings. Molecular analysis is at present the gold standard to confirm the diagnosis in PPK forms due to mutations in known causative genes. No specific and curative therapy is currently available for PPKs which highly impair patients' quality of life. Topical treatments are symptomatic and offer only temporary relief. Among systemic treatments, retinoids improve disease symptoms in the majority of patients.

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The Role of Mitochondrial DNA Mutations in Hearing Loss

Cited by 58 publications

References 85 publications

Mitochondrial mutations in maternally inherited hearing loss

Mitochondrial mutations in maternally inherited hearing loss

New treatment options for hearing loss

Hereditary palmoplantar keratodermas. Part II: syndromic palmoplantar keratodermas – Diagnostic algorithm and principles of therapy

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