OBJECTIVES/HYPOTHESIS: The enzyme of N-acetyltransferase (NAT) is involved in the metabolism and detoxification of cytotoxic and carcinogenic compounds as well as reactive oxygen species (ROS). The excessive amount of ROS generation occurs in the ageing inner ear. The exact etiopathogenesis of presbycusis is not known, but it is generally accepted that it is the result of series of insults, such as physiologic age-related degeneration, noise exposure, medical disorders and their treatment, as well as hereditary susceptibility. The effect of aging shows a wide interindividual range; we aimed to investigate whether profiles of NAT2 genotypes may be associated with the risk of presbycusis. STUDY DESIGN: Hospital-based, case-control study. METHODS: We examined 68 adults with presbycusis and 98 healthy controls. DNA was extracted from whole blood, and the polymorphisms of NAT2*5A, NAT2*6A, NAT2*7A/B, and NAT2*14A were determined using a real-time polymerase chain reaction and fluorescence resonance energy transfer with a Light-Cycler Instrument. Associations between specific genotypes and the development of presbycusis were examined by use of logistic regression analyses to calculate odds ratios and 95% confidence intervals. RESULTS: Gene polymorphisms at NAT2*5A, NAT2*7A/B, and NAT2*14A in subjects with presbycusis were not significantly different from in the controls (P > .05). However, in NAT2*6A, the risk of presbycusis was 15.2-fold more in individuals with mutant allele than subjects with wild genotype (P = .013). Individuals with NAT2*6A heterozygote allele had a 0.34-fold less risk in the development of presbycusis than subjects with mutant allele (P = .032) CONCLUSION: We demonstrated a significant association between the NAT2*6A polymorphism and age-related hearing loss in this population. However, the sample size was relatively small, and further studies need to investigate the exact role of NAT2 gene polymorphism in the etiopathogenesis of the presbycusis.
OBJECTIVES/HYPOTHESIS: The enzyme of N-acetyltransferase (NAT) is involved in the metabolism and detoxification of cytotoxic and carcinogenic compounds as well as reactive oxygen species (ROS). The excessive amount of ROS generation occurs in the ageing inner ear. The exact etiopathogenesis of presbycusis is not known, but it is generally accepted that it is the result of series of insults, such as physiologic age-related degeneration, noise exposure, medical disorders and their treatment, as well as hereditary susceptibility. The effect of aging shows a wide interindividual range; we aimed to investigate whether profiles of NAT2 genotypes may be associated with the risk of presbycusis. STUDY DESIGN: Hospital-based, case-control study. METHODS: We examined 68 adults with presbycusis and 98 healthy controls. DNA was extracted from whole blood, and the polymorphisms of NAT2*5A, NAT2*6A, NAT2*7A/B, and NAT2*14A were determined using a real-time polymerase chain reaction and fluorescence resonance energy transfer with a Light-Cycler Instrument. Associations between specific genotypes and the development of presbycusis were examined by use of logistic regression analyses to calculate odds ratios and 95% confidence intervals. RESULTS: Gene polymorphisms at NAT2*5A, NAT2*7A/B, and NAT2*14A in subjects with presbycusis were not significantly different from in the controls (P > .05). However, in NAT2*6A, the risk of presbycusis was 15.2-fold more in individuals with mutant allele than subjects with wild genotype (P = .013). Individuals with NAT2*6A heterozygote allele had a 0.34-fold less risk in the development of presbycusis than subjects with mutant allele (P = .032) CONCLUSION: We demonstrated a significant association between the NAT2*6A polymorphism and age-related hearing loss in this population. However, the sample size was relatively small, and further studies need to investigate the exact role of NAT2 gene polymorphism in the etiopathogenesis of the presbycusis.
Authors: Anthony Bared; Xiaomei Ouyang; Simon Angeli; Li Lin Du; Kimberly Hoang; Denise Yan; Xue Zhong Liu Journal: Otolaryngol Head Neck Surg Date: 2010-08 Impact factor: 3.497
Authors: Sophie Boucher; Fabienne Wong Jun Tai; Sedigheh Delmaghani; Andrea Lelli; Amrit Singh-Estivalet; Typhaine Dupont; Magali Niasme-Grare; Vincent Michel; Nicolas Wolff; Amel Bahloul; Yosra Bouyacoub; Didier Bouccara; Bernard Fraysse; Olivier Deguine; Lionel Collet; Hung Thai-Van; Eugen Ionescu; Jean-Louis Kemeny; Fabrice Giraudet; Jean-Pierre Lavieille; Arnaud Devèze; Anne-Laure Roudevitch-Pujol; Christophe Vincent; Christian Renard; Valérie Franco-Vidal; Claire Thibult-Apt; Vincent Darrouzet; Eric Bizaguet; Arnaud Coez; Hugues Aschard; Nicolas Michalski; Gaëlle M Lefevre; Anne Aubois; Paul Avan; Crystel Bonnet; Christine Petit Journal: Proc Natl Acad Sci U S A Date: 2020-11-23 Impact factor: 11.205
Authors: Kelly L Kane; Chantal M Longo-Guess; Leona H Gagnon; Dalian Ding; Richard J Salvi; Kenneth R Johnson Journal: Hear Res Date: 2011-11-22 Impact factor: 3.208
Authors: Rick A Friedman; Lut Van Laer; Matthew J Huentelman; Sonal S Sheth; Els Van Eyken; Jason J Corneveaux; Waibhav D Tembe; Rebecca F Halperin; Ashley Q Thorburn; Sofie Thys; Sarah Bonneux; Erik Fransen; Jeroen Huyghe; Ilmari Pyykkö; Cor W R J Cremers; Hannie Kremer; Ingeborg Dhooge; Dafydd Stephens; Eva Orzan; Markus Pfister; Michael Bille; Agnete Parving; Martti Sorri; Paul H Van de Heyning; Linna Makmura; Jeffrey D Ohmen; Frederick H Linthicum; Jose N Fayad; John V Pearson; David W Craig; Dietrich A Stephan; Guy Van Camp Journal: Hum Mol Genet Date: 2008-12-01 Impact factor: 6.150
Authors: Dina L Newman; Laurel M Fisher; Jeffrey Ohmen; Robert Parody; Chin-To Fong; Susan T Frisina; Frances Mapes; David A Eddins; D Robert Frisina; Robert D Frisina; Rick A Friedman Journal: Hear Res Date: 2012-10-25 Impact factor: 3.208