Genetics of Hearing Loss: Contributions of Mitochondrial DNA

2002 ◽  
Vol 12 (1) ◽  
pp. 2-5
Author(s):  
Jill L. Elfenbein
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna

The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss

2009 ◽  
Vol 390 (3) ◽  
pp. 755-757 ◽  
Author(s):  
Haris Kokotas ◽  
Maria Grigoriadou ◽  
George S. Korres ◽  
Elisabeth Ferekidou ◽  
Eleftheria Papadopoulou ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation

Audiological Features and Mitochondrial DNA Sequence in a Large Family Carrying Mitochondrial A1555G Mutation without Use of Aminoglycoside

2005 ◽  
Vol 114 (2) ◽  
pp. 153-160 ◽  
Author(s):  
Tatsuo Matsunaga ◽  
Hiroshi Kumanomido ◽  
Yu-ichi Goto ◽  
Masae Shiroma ◽  
Shin-ichi Usami
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Dna Sequences ◽  
Large Family ◽  
Outer Hair Cells ◽  
Japanese Family ◽  
A1555g Mutation ◽  
Genetic Mechanisms ◽  
High Degree ◽  
Sibling Group

To elucidate the pathophysiological and genetic mechanisms of hearing loss associated with the homoplasmic mitochondrial A1555G mutation in the absence of aminoglycoside exposure, we conducted audiological and genetic analyses on 67 maternally related members of a large Japanese family carrying this mutation. A consistent pattern was evident in the audiograms, with features of sensory presbycusis, cochlear origin at all levels of hearing loss, and a high degree of vulnerability of outer hair cells. That the degree of hearing loss was similar in affected subjects within the same sibling group but differed between sibling groups suggests the involvement of nuclear modifier genes. Total mitochondrial DNA sequences were completely identical among subjects with various levels of hearing loss, and lacked additional pathogenic mutations. For the diagnosis of sensorineural hearing loss, the mitochondrial A1555G mutation should be considered when these features are present even in the absence of aminoglycoside exposure.

Mitochondrial DNA haplogroup associated with hereditary hearing loss in a Japanese population

2012 ◽  
Vol 132 (11) ◽  
pp. 1178-1182 ◽  
Author(s):  
Tomofumi Kato ◽  
Noriyuki Fuku ◽  
Yoshihiro Noguchi ◽  
Haruka Murakami ◽  
Motohiko Miyachi ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Japanese Population ◽  
Hereditary Hearing Loss

scholarly journals Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

2014 ◽  
Vol 11 (2) ◽  
pp. 1127-1131 ◽  
Author(s):  
HONG LIU ◽  
YUECHEN HAN ◽  
SHUAI WANG ◽  
HAIBO WANG
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Hair Shaft ◽  
Common Deletion

scholarly journals Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

1998 ◽  
Vol 6 (6) ◽  
pp. 563-569 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa ◽  
MikeD Weston ◽  
LarryD Overbeck ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation

scholarly journals Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

2018 ◽  
Vol 275 (8) ◽  
pp. 1979-1985 ◽  
Author(s):  
Urszula Lechowicz ◽  
Agnieszka Pollak ◽  
Danuta Raj-Koziak ◽  
Beata Dziendziel ◽  
Piotr Henryk Skarżyński ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Visual Analogue Scale ◽  
Analogue Scale ◽  
Medical Problem ◽  
Polish Population ◽  
Pathogenic Variants ◽  
Individual Perception ◽  
Characteristic Features ◽  
Mtdna Variants

Abstract Purpose Tinnitus described as individual perception of phantom sound constitutes a significant medical problem and has become an essential subject of many studies conducted worldwide. In the study, we aimed to examine the prevalence of tinnitus among Polish hearing loss (HL) patients with identified mitochondrial DNA (mtDNA) variants. Methods Among the selected group of unrelated HL patients with known mtDNA pathogenic variants, two questionnaires were conducted, i.e. Tinnitus Handicap Inventory translated into Polish (THI-POL) and Visual Analogue Scale (VAS) for measuring subjectively perceived tinnitus loudness, distress, annoyance and possibility of coping with this condition (VASs). Pathogenic mtDNA variants were detected with real-time PCR and sequencing of the whole mtDNA. Results This is the first extensive tinnitus characterization using THI-POL and VASs questionnaires in HL patients due to mtDNA variants. We have established the prevalence of tinnitus among the studied group at 23.5%. We found that there are no statistically significant differences in the prevalence of tinnitus and its characteristic features between HL patients with known HL mtDNA variants and the general Polish population. In Polish HL patients with tinnitus, m.7511T>C was significantly more frequent than in patients without tinnitus. We observed that the prevalence of tinnitus is lower in Polish patients with m.1555A>G as compared to other available data. Conclusions Our data suggest that the mtDNA variants causative of HL may affect tinnitus development but this effect seems to be ethnic-specific.

The Role of Mitochondrial DNA Mutations in Hearing Loss

2013 ◽  
Vol 51 (7-8) ◽  
pp. 588-602 ◽  
Author(s):  
Yu Ding ◽  
Jianhang Leng ◽  
Fan Fan ◽  
Bohou Xia ◽  
Pan Xu
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Mitochondrial Dna Mutations ◽  
Dna Mutations
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