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Association of genetic variations in the mitochondrial DNA control region with presbycusis

Masoumeh Falah1, Mohammad Farhadi1, Seyed Kamran Kamrava1

  • 1ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences, Tehran, Iran.

Clinical Interventions in Aging
|April 21, 2017
PubMed
Abstract

Insights

Mitochondrial DNA (mtDNA) control region variations are linked to presbycusis. Specific nucleotide variants showed significant frequency differences between patients and controls, suggesting their role in age-related hearing loss.

Area of Science:

  • Genetics
  • Otolaryngology
  • Cell Biology

Background:

  • Mitochondria are crucial for cellular energy and are implicated in age-related hearing loss (presbycusis).
  • Mitochondrial DNA (mtDNA) variations, particularly in the control region, are suspected contributors to presbycusis.
  • The mtDNA control region regulates mitochondrial gene expression and replication.

Purpose of the Study:

  • To investigate variations in the mitochondrial DNA control region in individuals with presbycusis compared to controls.
  • To understand the role of mitochondrial dysfunction in the progression of age-related hearing loss.

Main Methods:

  • Polymerase chain reaction (PCR) and Sanger sequencing were used to analyze the mtDNA control region.
  • 58 patients with presbycusis and 220 control subjects were included in the analysis.

Main Results:

  • 113 sequence variants were identified in the mitochondrial DNA control region.
  • Four specific variants (16,223 C>T, 16,311 T>C, 16,249 T>C, and 15,954 A>C) showed statistically significant frequency differences between presbycusis patients and controls.
  • 84% of observed variants were located in hypervariable regions of the mtDNA control region.

Conclusions:

  • Significant differences in mtDNA control region variant frequencies support the role of mitochondria in presbycusis.
  • Identified variants may serve as potential diagnostic markers for presbycusis risk.
  • Alterations in the mtDNA control region could impact gene expression and mitochondrial copy number in presbycusis.
Keywords:
age-related hearing impairmentaudiologymtDNA control regionpresbycusis

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