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

Bioscience Reports
Stefano BerrettiniGabriele Siciliano

Abstract

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.

References

Sep 1, 1988·Neurology·M ZevianiL P Rowland
Sep 11, 1993·Nucleic Acids Research·T HutchinG Cortopassi
Jan 1, 1996·Methods in Enzymology·M Sciacco, E Bonilla
Dec 10, 1997·Journal of Medical Genetics·J C GardnerP Beighton
Jan 23, 1999·American Journal of Human Genetics·F M SantorelliM Hirano
Feb 9, 1999·American Journal of Otolaryngology·M ShohatG J Halpern
Mar 27, 1999·European Journal of Human Genetics : EJHG·K VerhoevenG Van Camp
May 18, 1999·American Journal of Otolaryngology·R A CasanoN Fischel-Ghodsian
Dec 28, 1999·Brain : a Journal of Neurology·P F ChinneryT D Griffiths
Jan 14, 2000·Journal of Medical Genetics·S UsamiS Komune
Jun 15, 2000·European Journal of Human Genetics : EJHG·M S LehtonenK Majamaa
Jul 25, 2000·Clinical Genetics·G Van Camp, R J Smith
Aug 1, 2000·Human Molecular Genetics·M X GuanG Attardi
Feb 15, 2001·ORL; Journal for Oto-rhino-laryngology and Its Related Specialties·T TonoH Shinkawa
Feb 15, 2001·European Journal of Human Genetics : EJHG·T P HutchinR F Mueller
Apr 26, 2001·The Journal of Laryngology and Otology·S BerrettiniM Mancuso
May 30, 2001·European Journal of Human Genetics : EJHG·T P HutchinR F Mueller
Jun 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Y BykhovskayaN Fischel-Ghodsian
Aug 8, 2001·Journal of Neurology, Neurosurgery, and Psychiatry·D HillJ Graham
May 31, 2002·ORL; Journal for Oto-rhino-laryngology and Its Related Specialties·Mizuki YoshidaKokichi Kikuchi
Jun 26, 2002·The Journal of Laryngology and Otology·V RautJ G Toner
Aug 13, 2002·The Laryngoscope·Kotaro IshikawaKeiichi Ichimura
Oct 10, 2002·Clinical Genetics·E ØStergaardK Brøndum-Nielsen
Feb 3, 2004·The Laryngoscope·Yoshihiro NoguchiKen Kitamura
Apr 28, 2004·Molecular Genetics and Metabolism·Yelena BykhovskayaNathan Fischel-Ghodsian

❮ Previous
Next ❯

Citations

Aug 24, 2013·International Journal of Molecular Medicine·Valeria GuaranAlessandro Martini
Apr 1, 2010·Biochemical and Biophysical Research Communications·Małgorzata RydzaniczKrzysztof Szyfter
Feb 24, 2009·Neuromuscular Disorders : NMD·Roberto DiFabioCarlo Casali
Mar 30, 2010·Developmental Medicine and Child Neurology·Anna M ChilosiGiovanni Cioni
May 27, 2010·Pediatrics International : Official Journal of the Japan Pediatric Society·Zuhre KayaCandan Ozogul
Oct 15, 2008·Biochemical and Biophysical Research Communications·M ElstnerT Klopstock
Sep 25, 2014·American Journal of Medical Genetics. Part a·Yongchuan ChaiTao Yang
Jan 31, 2013·Hearing Research·Erik C Böttger, Jochen Schacht
Dec 29, 2012·Scandinavian Journal of Infectious Diseases·Håkan HanbergerUNKNOWN Swedish Reference Group for Antibiotics
Mar 26, 2013·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·Joshua C YelvertonKelley M Dodson
Mar 23, 2017·BMC Medical Genetics·Hideki MutaiTatsuo Matsunaga

❮ Previous
Next ❯

Related Concepts

Related Feeds

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.

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.