Progressive Sensorineural Hearing Impairment in Maternally Inherited Diabetes Mellitus and Deafness (MIDD)

Hendrickx, Jan-Jaap; Mudde, Aart N.; Hart, Leen M ’t; Huygen, P.L.M.; Cremers, C.W.R.J.

doi:10.1097/01.mao.0000224091.02506.a0

Cited by 5 publications

(3 citation statements)

References 27 publications

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“…Thus SNHL is a frequent clinical manifestation of mitochondrial diseases (Fischel-Ghodsian 2003;Kato et al 2010). Mutations of mtDNA can cause syndromic and nonsyndromic SNHL and some of them may even increase the inner ear hair cells sensitivity to ototoxic drugs (Estivill et al 1998b;Hendrickx et al 2006). Hearing loss resulting from mtDNA mutations probably develops due to insufficient ATP production in stria vascularis marginal cells.…”

Section: Snhl On the Basis Of Mitochondrial Dna Mutationsmentioning

confidence: 99%

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Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies

Masindova

Varga²,

Staník³

et al. 2012

endo

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Hearing loss is one of the most widespread sensory disorders. The incidence of deafness in general population is 1:1000 newborns. About one half of the congenital sensorineural hearing loss (SNHL) cases is inherited. Recessive mutations in the gap junction beta 2 (GJB2) gene are the most common genetic causes of the nonsyndromic SNHL. The GJB2 encodes a protein connexin 26 which forms a subunit of gap junction essential for the correct function of the inner ear. The syndromic SNHL is associated with a wide range of other symptoms, which encompass also dysfunctions of endocrine organs. The Pendred syndrome associated with the hearing impairment is characterized by a prelingual, bilateral sever to profound SNHL, goiter, and iodine organification defect. It is an autosomal recessive disorder, which develops due to mutations in pendrin, an anion channel encoded by SLC26A4 gene. Another important type of syndromic hearing loss is the Maternally Inherited Diabetes and Deafness syndrome, which is caused by several mitochondrial DNA mutations. These mutations are clinically manifested by a hearing impairment with development of the diabetes in the adult age. Hearing impairment occurs during puberty when sensation of high frequency tones is affected following with further progress to profound bilateral sensorineural hearing impairment in the whole frequency range. This review deals with the molecular mechanisms of common genetic causes of the hereditary SNHL along with the selected endocrinopathies emphasizing that the DNA analyses along with the functional studies significantly contribute to the early SNHL diagnosis followed by personalized therapy and genetic counseling. sensorineural hearing lossHearing loss is one of the most common sensory disorders. Based on the World Health Organization's data, over 278 million people suffer from the hearing loss (WHO 2010). The incidence of profound hearing loss is 1:1000 in newborns (Morton 1991); however, the etiology of the hearing disorders is extremely diverse. Approximately half of the congenital sensorineural hearing loss (SNHL) is caused by genetic abnormalities, 25% by environmental factors, and the remaining 25% has unknown origin (Morton 1991; Schrijver 2004).

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Section: Snhl On the Basis Of Mitochondrial Dna Mutationsmentioning

confidence: 99%

“…Gradually it leads to profound hearing loss in all frequencies and progression varies between 1.5 and 7.9 dB per year (Yamasoba et al 1996;Hendrickx et al 2006). Diabetes mellitus of m.3423A>G mutation carriers is manifested in the age of 35 years in average (Maassen et al 2004).…”

Section: Maternally Inherited Diabetes and Deafness Syndromementioning

confidence: 99%

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies

Masindova

Varga²,

Staník³

et al. 2012

endo

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“…С MIDDсиндромом также связаны дистрофия желтого пятна, нервно-мышечные и психиатрические проявления, кардиомиопатия, а также почечная недостаточность. Проведенное нидерландскими учеными исследование [13,14] показало, что у больных с MIDD-синдромом потеря слуха происходит приблизительно на 1,4 дБ в год в среднем на 0,25 и 8 кГц. В диапазоне частот от 0,5 до 2 кГц снижение было примерно на 2 дБ в год; при 4 кГц составило 2,4 дБ в год.…”

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Hearing disorders in the children presenting with various chronic diseases

Barilyak¹,

Tsygankova²,

Meleshina³

et al. 2015

Vestn. otorinolaringol.

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The objective of the present study was to improve the effectiveness of early diagnostics and prophylaxis of hearing disturbances in the children presenting with various chronic diseases. As is known, there are several dozens of neurologic disorders associated with hearing disorders. By way of example, there is a group of nephropathologies responsible for the loss of hearing in the children. Specifically, hearing impairment can be one of the symptoms of diabetes mellitus. The patients presenting with mucopolysaccharidosis make up a group at risk of hearing impairment. Sensorineural loss of hearing is widespread among the children presenting with coeliac disease. The protocols for the treatment of certain pathologies envisage the application of certain medications possessed of the cytotoxic activity, such as preparations for chemo- and radiotherapy or cytostatic agents that suppress cell proliferation when applied for the management of some autoimmune diseases. It is concluded that cooperation between health providers representing different medical disciplines may be instrumental in the organization of efficacious screening for the detection of children with severe chronic pathology.

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Mitochondrial Cytopathies: Melas and Midd Syndromes. One Genetic Defect - Different Clinical Appearances

Muranova¹,

Строков²

2017

Nevrol. zh.

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Progressive Sensorineural Hearing Impairment in Maternally Inherited Diabetes Mellitus and Deafness (MIDD)

Abstract: Our six adult patients with the mitochondrial tRNA(LEU(RUU)) gene mutation at location 3,243 showed almost normal to severe HI which was progressive beyond presbyacusis. Data from the literature and our findings suggest a cochlear localization of the HI.

Cited by 5 publications

References 27 publications

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies

Molecular and hereditary mechanisms of sensorineural hearing loss with focus on selected endocrinopathies

Hearing disorders in the children presenting with various chronic diseases

Mitochondrial Cytopathies: Melas and Midd Syndromes. One Genetic Defect - Different Clinical Appearances

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