Audio Profiles in Mitochondrial Deafness m.1555A>G and m.3243A>G Show Distinct Differences
PBN-AR
Instytucja
Instytut Fizjologii i Patologii Słuchu
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Główny język publikacji
polski
Czasopismo
Medical Science Monitor
ISSN
1234-1010
EISSN
Wydawca
DOI
URL
Rok publikacji
2015
Numer zeszytu
Strony od-do
694-700
Numer tomu
21
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Open access
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Creative Commons — Uznanie autorstwa-Niekomercyjne-Bez utworów zależnych
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Streszczenia
Język
angielski
Treść
BACKGROUND: Hearing loss is one of the most common symptoms of mitochondrial disorders. However, audiological phenotypes associated with different molecular defects in mtDNA are not yet well characterized. MATERIAL AND METHODS: A large cohort of 1499 nonconsanguineous patients aged 5-40 years with hearing loss of unknown etiology was screened for mutations in mtDNA. For further analysis, patients harboring m.1555A>G and m.3243A>G were selected. Hearing status of the patients was assessed by pure tone audiometry. Patterns of audiograms (hearing threshold levels at each examined frequency) were statistically compared among the carriers of the m.1555A>G and the m.3243A>G mutations. RESULTS: We identified 20 patients positive for m.1555A>G mutation and 16 patients positive for m.3243A>G change. The frequency of the above transitions was calculated in our cohort as 1.33% and 1.06%, respectively. Seventeen affected family members carrying the mutations were included into the study. Typical shape of the audiograms in patients with m.1555A>G mutation presented a ski-slope pattern, whereas the audiometric curves among the m.3243A>G individuals had a pantonal shape (a flat curve) with slight downward sloping at the higher frequencies. The differences were statistically significant. The onset of hearing loss was noted earlier among m.1555A>G than m.3243A>G patients (12.5 and 26 years, respectively). Aminoglycoside administration was declared in both groups in 11 and 4 cases respectively, and caused abrupt hearing deterioration in all cases. CONCLUSIONS: A pattern of audiogram in patients with mitochondrial deafness may suggest a localization of mtDNA mutation. The pathogenesis of the audiometric differences needs further study.
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System-identifier
PX-56b45b078106eb71826df41d
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