Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
Katarzyna Iwanicka-PronickaRafał Płoski

Abstract

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. 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. 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 significan...Continue Reading

References

Mar 20, 1998·Annals of Neurology·C M SueJ G Morris
Dec 28, 1999·Brain : a Journal of Neurology·P F ChinneryT D Griffiths
Jun 15, 2000·European Journal of Human Genetics : EJHG·M S LehtonenK Majamaa
Sep 29, 2001·International Journal of Pediatric Otorhinolaryngology·J B Nadol, S N Merchant
Aug 19, 2003·Ear and Hearing·Nathan Fischel-Ghodsian
May 24, 2006·Neurology·K A M Majamaa-VolttiK Majamaa
May 10, 2007·Bioscience Reports·F ForliS Berrettini
May 11, 2007·Clinical Genetics·H KokotasP J Willems
Oct 16, 2007·American Journal of Medical Genetics. Part a·Agnieszka PollakRafal Ploski
Jun 2, 2009·Molecular Genetics and Metabolism·Yelena BykhovskayaNathan Fischel-Ghodsian
Apr 1, 2010·Biochemical and Biophysical Research Communications·Małgorzata RydzaniczKrzysztof Szyfter
Oct 12, 2012·Audiology & Neuro-otology·Sanna HäkliKari Majamaa
Nov 8, 2012·PloS One·Katarzyna Iwanicka-PronickaRafał Płoski
Mar 26, 2013·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Joshua C YelvertonKelley M Dodson

❮ Previous
Next ❯

Citations

Oct 28, 2016·Pharmacogenetics and Genomics·Julia M BarbarinoTeri E Klein
Jun 25, 2018·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Urszula LechowiczMonika Ołdak
Feb 23, 2018·Orphanet Journal of Rare Diseases·Arianna Di StadioCorrado Angelini

❮ Previous
Next ❯

Methods Mentioned

BETA
Assay

Software Mentioned

Statistica

Related Concepts

Related Feeds

Aminoglycosides

Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial medications that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside. Discover the latest research on aminoglycoside here.

Aminoglycosides (ASM)

Aminoglycoside is a medicinal and bacteriologic category of traditional Gram-negative antibacterial medications that inhibit protein synthesis and contain as a portion of the molecule an amino-modified glycoside. Discover the latest research on aminoglycoside here.

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.