A Review of Cochlear Implantation in Mitochondrial Sensorineural Hearing Loss

Sinnathuray, A. R.; Raut, Vivek; Awa, A; Magee, A.; Toner, J. G.

doi:10.1097/00129492-200305000-00012

Cited by 79 publications

(74 citation statements)

References 51 publications

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“…1 We considered our case to be the syndromic type, because the patient had short stature and suffered from hypertrichosis and epilepsy. Moreover, she showed high lactate levels in her blood and cerebrospinal fluid, and mild brain atrophy on MRI.…”

Section: Discussionmentioning

confidence: 99%

“…In patients with many types of mitochondrial, profound, sensorineural hearing loss, we speculate that cochlear implantation may represent a promising treatment, because hearing loss associated with mitochondrial disorders is more likely to be caused by cochlear dysfunction than retrocochlear abnormalities. 1,6,7 Results from a guinea pig cochlear model also suggest that chronic mitochondrial dysfunction may most predominantly affect the stria vascularis and supporting cells. 8 Therefore, we believe that cochlear implantation should be considered in patients with progressive sensorineural hearing loss associated with a mitochondrial disease, regardless of whether their hearing loss is syndromic or nonsyndromic.…”

Section: Discussionmentioning

confidence: 99%

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Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition

et al. 2011

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Objective: We present a patient with mitochondrial hearing loss and a novel mitochondrial DNA transition, who underwent successful cochlear implantation.Case report: An 11-year-old girl showed epilepsy and progressive hearing loss. Despite the use of hearing aids, she gradually lost her remaining hearing ability. Laboratory data revealed elevated lactate levels, indicating mitochondrial dysfunction. Magnetic resonance imaging showed diffuse, mild brain atrophy. Cochlear implantation was performed, and the patient's hearing ability was markedly improved. Whole mitochondrial DNA genome analysis revealed a novel heteroplasmic mitochondrial 625G>A transition in the transfer RNA gene for phenylalanine. This transition was not detected in blood DNA from the patient's mother and healthy controls. Mitochondrial respiratory chain activities in muscle were predominantly decreased in complex III.Conclusion: This case indicates that cochlear implantation can be a valuable therapeutic option for patients with mitochondrial syndromic hearing loss.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Successful cochlear implantation in a patient with mitochondrial hearing loss and m.625G>A transition

et al. 2011

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“…9 Sensorineural hearing loss may be nonsyndromic, occurring in isolation in A1555G mutation in the MT-RNR1 gene or syndromic, as associated with the A3243G point mutation in MT-TL1 gene. 27 Hearing loss can be improved by appropriate hearing devices and the use of cochlear implants in mitochondrial diseases. 28 Ptosis and ophthalmoparesis are common findings in mitochondrial disease.…”

Section: Treatment Of Neurological Complicationsmentioning

confidence: 99%

How Can We Treat Mitochondrial Encephalomyopathies? Approaches to Therapy

2008

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Summary:Mitochondrial disorders are a heterogeneous group of diseases affecting different organs (brain, muscle, liver, and heart), and the severity of the disease is highly variable. The chronicity and heterogeneity, both clinically and genetically, means that many patients require surveillance follow-up over their lifetime, often involving multiple disciplines. Although our understanding of the genetic defects and their pathological impact underlying mitochondrial diseases has increased over the past decade, this has not been paralleled with regards to treatment. Currently, no definitive pharmacological treatment exists for patients with mitochondrial dysfunction, except for patients with primary deficiency of coenzyme Q10. Pharmacological and nonpharmacological treatments increasingly being investigated include ketogenic diet, exercise, and gene therapy. Management is aimed primarily at minimizing disability, preventing complications, and providing prognostic information and genetic counseling based on current best practice. Here, we evaluate therapies used previously and review current and future treatment modalities for both adults and children with mitochondrial disease.

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“…Medical procedures that may be required for cardiomyopathy and sensorineural hearing loss include heart and cochlear transplantation, respectively. 54,55 Apart from these general supportive and preventive measures, however, consensus guidelines for treatment and management of MELAS have yet to be developed, reflecting continued uncertainty about the underlying pathophysiology of the syndrome. Models have considered decreased aminoacylation of mitochondrial tRNA (causing impaired mitochondrial protein synthesis), altered calcium homeostasis, and imbalances in nitric oxide metabolism.…”

Section: What Is Melas?mentioning

confidence: 99%