Mitochondrial DNA, hearing impairment, and ageing

2007 ◽  
pp. 131-152
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment

scholarly journals Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

2007 ◽  
Vol 15 (11) ◽  
pp. 1145-1155 ◽  
Author(s):  
Marianne Lévêque ◽  
Sandrine Marlin ◽  
Laurence Jonard ◽  
Vincent Procaccio ◽  
Pascal Reynier ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Genome ◽  
Hearing Impairment ◽  
Dna Chip ◽  
Genome Screening ◽  
Syndromic Hearing Impairment

scholarly journals A case of mitochondrial DNA A3243G mutation presenting with renal complications and hearing impairment as the main clinical manifestations.

2013 ◽  
Vol 56 (6) ◽  
pp. 769-774 ◽  
Author(s):  
Ayumi Ikenoue ◽  
Yuki Nagano ◽  
Yasuaki Ushisako ◽  
Keiji Matsuda ◽  
Tetsuya Tono ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Clinical Manifestations ◽  
Renal Complications ◽  
A3243g Mutation

scholarly journals Maternally-inherited diabetes with deafness (MIDD) and hyporeninemic hypoaldosteronism

2012 ◽  
Vol 56 (8) ◽  
pp. 574-577 ◽  
Author(s):  
Patricia B. Mory ◽  
Marcia C. dos Santos ◽  
Claudio E. Kater ◽  
Regina S. Moisés
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Monogenic Diabetes ◽  
Rare Form ◽  
Mitochondrial Cytopathies ◽  
Inherited Diabetes

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism. Arq Bras Endocrinol Metab. 2012;56(8):574-7

scholarly journals Hearing Impairment Associated with the 3243 Point Mutation of Mitochondrial DNA.

1997 ◽  
Vol 90 (11) ◽  
pp. 1201-1207
Author(s):  
Takayo YAMANA ◽  
Mikio SUZUKI ◽  
Ichiro KOMADA ◽  
Hiroya KITANO ◽  
Yoshiro YAZAWA ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Point Mutation

scholarly journals Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

2008 ◽  
Vol 28 (1) ◽  
pp. 49-59 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Forli ◽  
Susanna Passetti ◽  
Anna Rocchi ◽  
Luca Pollina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Pathological Study ◽  
Mtdna Mutations ◽  
A1555g Mutation ◽  
Sensorineural Hearing Impairment

Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

Large-Scale Screening of Mitochondrial DNA Mutations Among Iranian Patients with Prelingual Nonsyndromic Hearing Impairment

2012 ◽  
Vol 16 (4) ◽  
pp. 271-278 ◽  
Author(s):  
Mostafa Montazer Zohour ◽  
Mohammad Amin Tabatabaiefar ◽  
Fatemeh Azadegan Dehkordi ◽  
Effat Farrokhi ◽  
Mohammad Taghi Akbari ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Hearing Impairment ◽  
Large Scale ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations ◽  
Large Scale Screening ◽  
Iranian Patients
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