Tracking of the genetic deafness associated to the aging in Brazilian patients

Neurobiol Aging. 2009 Jul;30(7):1173-4. doi: 10.1016/j.neurobiolaging.2007.10.004. Epub 2007 Nov 26.

Abstract

Introduction: Presbyacusis is the most common cause of auditory dysfunction that is generally associated with aging in industrialized societies.

Objective: To assess the presence of the mitochondrial 4977-bp deletion in Brazilian patients with presbyacusis.

Materials and methods: One hundred unrelated patients of both genders were clinically examined to exclude syndromic forms of deafness. Specific oligonucleotide primers were designed to amplify the cytochrome b gene and the 4977-bp deletion of the mtDNA using the polymerase chain reaction.

Results: The mtDNA(4977) deletion was not identified in any of the samples analyzed. A region of the cytochrome b gene has been previously amplified and the presence of the mtDNA and the non-deleted mtDNA was confirmed in all of the samples.

Conclusions: These molecular findings disagree with reports describing the mtDNA(4977) deletion associated with aging, but do not discard the possibility of the existence of mutations in other genes in the patients and, highlight the importance of identifying the underlying genetic causes of presbyacusis, in the Brazilian population, to provide a better understanding of the internal ear diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Aging / genetics*
  • Aging / metabolism
  • Brazil
  • Cell Respiration / genetics
  • Cytochromes b / genetics*
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Mitochondrial Diseases / complications
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Diseases / metabolism
  • Mutation / genetics
  • Nerve Degeneration / genetics
  • Nerve Degeneration / metabolism
  • Nerve Degeneration / physiopathology
  • Presbycusis / genetics*
  • Presbycusis / metabolism
  • Presbycusis / physiopathology

Substances

  • DNA, Mitochondrial
  • Cytochromes b