Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure

Skou, Anne-Sofie; Tranebjærg, Lisbeth; Jensen, Tim; Hasle, Henrik

doi:10.1016/j.jpeds.2013.10.024

Cited by 14 publications

(10 citation statements)

References 11 publications

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“…single nucleotide polymorphism variants increasing the susceptibility to anthracycline-induced cardiotoxicity (Aminkeng et al, 2015) or mitochondrial mutations leading to a high-risk of deafness when exposed to aminoglycoside (Skou et al, 2014b), which is a common component of the supportive care in AML. single nucleotide polymorphism variants increasing the susceptibility to anthracycline-induced cardiotoxicity (Aminkeng et al, 2015) or mitochondrial mutations leading to a high-risk of deafness when exposed to aminoglycoside (Skou et al, 2014b), which is a common component of the supportive care in AML.…”

Section: Individualizing Therapy Based Upon Patient Constitutionmentioning

confidence: 99%

“…Identification of constitutional risk factors for specific toxicities may result in personalized adoptions of the therapy, e.g. single nucleotide polymorphism variants increasing the susceptibility to anthracycline-induced cardiotoxicity (Aminkeng et al, 2015) or mitochondrial mutations leading to a high-risk of deafness when exposed to aminoglycoside (Skou et al, 2014b), which is a common component of the supportive care in AML.…”

Section: Individualizing Therapy Based Upon Patient Constitutionmentioning

confidence: 99%

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Strategies for reducing the treatment‐related physical burden of childhood acute myeloid leukaemia – a review

Hasle

Kaspers

2016

Br J Haematol

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Over the last four decades the survival of paediatric patients with acute myeloid leukaemia has gradually increased to 70% in high-income countries. The therapy is very intensive and associated with many acute and long-term side effects. The early death rate has been reduced to 1-4%. The acute toxicity is a limiting factor for improving survival in low-income countries. Transplant is associated with more endocrinological late effects while cardiotoxicity is more common after relapse. Reducing the physical costs of therapy without jeopardizing survival may be accomplished by optimal supportive care, less cardiotoxic anthracyclines, less consolidation courses and strict indications for stem cell transplantation. Analysing scenarios with different frequency of transplantation in first complete remission show similar overall survival rates, indicating that almost all patients can be spared the procedure in first remission. Reducing relapse risk is an effective way of reducing toxicity and more targeted therapy and improved risk group stratifications are needed.

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Section: Individualizing Therapy Based Upon Patient Constitutionmentioning

confidence: 99%

Section: Individualizing Therapy Based Upon Patient Constitutionmentioning

confidence: 99%

Strategies for reducing the treatment‐related physical burden of childhood acute myeloid leukaemia – a review

Hasle

Kaspers

2016

Br J Haematol

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“…Of the mutations in human mtDNA, A1555G is one of the most common pathogenic mutations associated with aminoglycoside ototoxicity (6). However, increasing evidence has shown that the A1555G mutation cannot directly lead to hearing loss, as among pedigrees with maternally inherited deafness, a certain number of members (despite carrying the A1555G mutation) exhibit different levels of hearing, ranging from normal to profound hearing loss (7)(8)(9)(10)(11). Therefore, aminoglycosides, nuclear-encoded genes and the mtDNA genetic background may actively function in the occurrence of deafness (12,13).…”

Section: Introductionmentioning

confidence: 99%

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

et al. 2018

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The role of mitochondrial (mt)DNA variations in hearing loss have been studied extensively; in particular, the well-known pathogenic A1555G mutation in the human mitochondrial 12S ribosomal RNA gene is associated with aminoglycoside-induced and non-syndromic hearing loss. The present paper described a Chinese pedigree with hearing impairments. We first performed polymerase chain reaction and direct sequence analysis for the mtDNA genes.

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“…10–12 The ototoxicity may be exacerbated when gentamicin is used for prolonged duration, 13,14 multiple courses, 15 concomitantly with other ototoxic drugs such as diuretics, 16 in a noisy NICU environment, 7 during hypoxia, 17 or in some individuals with a genetic predisposition for developing hearing loss. 18 Adult, child, and infant data that show an association between gentamicin use and ototoxicity 16,19–24 come from small observational or retrospective studies, so larger, more robust analyses are needed during the neonatal period. In this study, we investigated the effect of gentamicin dose and duration of therapy on hearing screen results at the time of initial discharge in a large multicenter cohort of hospitalized infants.…”

mentioning

confidence: 99%

Evaluation of Gentamicin Exposure in the Neonatal Intensive Care Unit and Hearing Function at Discharge

Puia‐Dumitrescu

Bretzius

Brown

et al. 2018

The Journal of Pediatrics

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Objective To characterize the association between gentamicin dosing, duration of treatment, and ototoxicity in hospitalized infants. Study design This retrospective cohort study conducted at 330 neonatal intensive care units (2002–2014) included inborn infants exposed to gentamicin with available hearing screen results, and excluded infants with incomplete dosing data and major congenital anomalies. Our primary outcome was the final hearing screen result performed during hospitalization: abnormal (failed or referred for further testing in one or both ears) or normal (bilateral passed). The 4 measures of gentamicin exposure were highest daily dose, average daily dose, cumulative dose, and cumulative duration of exposure. We fitted separate multivariable logistic regression models adjusted for demographics, comorbidities, and other clinical events. Results A total of 84 808 infants met inclusion/exclusion criteria; median (25th, 75th percentile) gestational age and birth weight were 35 weeks (33, 38) and 2480 g (1890, 3184), respectively. Failed hearing screens occurred in 3238 (3.8%) infants; failed screens were more likely in infants of lower gestational age and birth weight, who had longer hospital lengths of stay, higher rates of morbidities, and were small for gestational age. Median highest daily dose, average daily dose, and cumulative dose were 4.0 mg/kg/day (3.0, 4.0), 3.8 mg/kg/day (3.0, 4.0), and 12.1 mg/kg (9.1, 20.5), respectively. Median cumulative duration of exposure was 3 days (3, 6). In adjusted analysis, gentamicin dose and duration of therapy were not associated with hearing screen failure. Conclusions Gentamicin dosing and duration of treatment were not associated with increased odds of failed hearing screen at the time of discharge from initial neonatal intensive care unit stay.

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Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure

Cited by 14 publications

References 11 publications

Strategies for reducing the treatment‐related physical burden of childhood acute myeloid leukaemia – a review

Strategies for reducing the treatment‐related physical burden of childhood acute myeloid leukaemia – a review

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment

Evaluation of Gentamicin Exposure in the Neonatal Intensive Care Unit and Hearing Function at Discharge

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