Investigation of the mtDNA mutations in Syrian families with non-syndromic sensorineural hearing loss

Moassass, Faten; Al‐Halabi, Bassel; Nweder, Mohamad Sayah; Al‐Achkar, Walid

doi:10.1016/j.ijporl.2018.07.028

Cited by 7 publications

(3 citation statements)

References 31 publications

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“…The m.1555A>G mutation in the MTRNR1 gene accounted for ~2% of Taiwanese families (~10% of multiplex families) with idiopathic SNHI [39]. The m.1494C>T mutation that has been reported as pathogenic in other populations [40,41] was not detected in our cohort. In Taiwanese patients, m.1555A>G was identified in a variety of mtDNA backgrounds (i.e., the mitochondrial haplogroups), suggesting that this mutation arose from multiple origins in the Taiwanese population [39].…”

Section: Resultsmentioning

confidence: 70%

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Tsai

Lin

et al. 2019

Genes

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Hereditary hearing impairment (HHI) is a common but heterogeneous clinical entity caused by mutations in a plethora of deafness genes. Research over the past few decades has shown that the genetic epidemiology of HHI varies significantly across populations. In this study, we used different genetic examination strategies to address the genetic causes of HHI in a large Taiwanese cohort composed of >5000 hearing-impaired families. We also analyzed the clinical features associated with specific genetic mutations. Our results demonstrated that next-generation sequencing-based examination strategies could achieve genetic diagnosis in approximately half of the families. Common deafness-associated genes in the Taiwanese patients assessed, in the order of prevalence, included GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. However, the Taiwanese patients had some unique mutations in these genes. These findings may have important clinical implications for refining molecular diagnostics, facilitating genetic counseling, and enabling precision medicine for the management of HHI.

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Section: Resultsmentioning

confidence: 70%

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Tsai

Lin

et al. 2019

Genes

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“…The carriers exhibited sensorineural hearing loss with variable severity and onset [45]. These mutations have been reported in the mitochondrial genes encoding for 12S rRNA and tRNA genes [46,47].…”

Section: Mitochondrial-linked Nshlmentioning

confidence: 90%

Genetics and Acquired Hearing Loss

Alkowari¹,

Guarch²

2019

Geriatric Medicine and Gerontology

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Hearing loss (HL) is a worldwide disease with substantial economic costs for the public health. Around 466 million people have disabling hearing loss and the WHO estimated that by 2050 over 900 million people will suffer hearing loss. Several factors including infections, noise-exposure, ototoxic medications or genetic disorders could cause hearing impairment. Hearing devices such as cochlear implants and aids are the current therapies. Although the prevalence of hearing loss is very high, alternative treatments as pharmaceutical agents are currently insufficient. Within the past years, increased knowledge on hearing loss etiology and physiopathology opened new opportunities for future research towards hearing loss treatment. Here we aim to review current bibliography on genetics factors involved in hearing loss.

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“…5 Variants in mtDNA are important causes of aminoglycoside-induced and non-syndromic hearing loss (AINSHL) in many families worldwide. [6][7][8] In addition to the well-known m.A1555G or m.C1494T mutation, mitochondrial tRNA (mt-tRNA) gene is another hot spot for pathogenic variants associated with deafness. 9 Variants in mt-tRNA genes may alter tRNA structure and functions, including the processing of RNA precursors, modification of specific nucleotides, and maintenance of secondary and tertiary structures.…”

Section: Introductionmentioning

confidence: 99%

The Association Between Mitochondrial tRNAGlu Variants and Hearing Loss: A Case-Control Study

Yu,

Li,

Guo

et al. 2024

PGPM

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Purpose This study aimed to examine the frequencies of mt-tRNA Glu variants in 180 pediatric patients with non-syndromic hearing loss (NSHL) and 100 controls. Methods Sanger sequencing was performed to screen for mt-tRNA Glu variants. These mitochondrial DNA (mtDNA) pathogenic mutations were further assessed using phylogenetic conservation and haplogroup analyses. We also traced the origins of the family history of probands carrying potential pathogenic mtDNA mutations. Mitochondrial functions including mtDNA content, ATP and reactive oxygen species (ROS) were examined in cells derived from patients carrying the mt-tRNA Glu A14692G and CO1/tRNA Ser(UCN) G7444A variants and controls. Results We identified four possible pathogenic variants: m.T14709C, m.A14683G, m.A14692G and m.A14693G, which were found in NSHL patients but not in controls. Genetic counseling suggested that one child with the m.A14692G variant had a family history of NSHL. Sequence analysis of mtDNA suggested the presence of the CO1/tRNA Ser(UCN) G7444A and mt-tRNA Glu A14692G variants. Molecular analysis suggested that, compared with the controls, patients with these variants exhibited much lower mtDNA copy numbers, ATP production, whereas ROS levels increased ( p <0.05 for all), suggesting that the m.A14692G and m.G7444A variants led to mitochondrial dysfunction. Conclusion mt-tRNA Glu variants are important risk factors for NSHL.

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Investigation of the mtDNA mutations in Syrian families with non-syndromic sensorineural hearing loss

Cited by 7 publications

References 31 publications

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population

Genetics and Acquired Hearing Loss

The Association Between Mitochondrial tRNAGlu Variants and Hearing Loss: A Case-Control Study

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