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Related Experiment Videos

Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms.

P Capaccio1, F Ottaviani, V Cuccarini

  • 1Clinica Otorinolaringoiatrica, Azienda Ospedaliera L. Sacco; Polo Universitario Vialba, Ospedale Maggiore IRCCS, Milan, Italy.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|March 19, 2005
PubMed
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Methylenetetrahydrofolate reductase (MTHFR) gene variations are linked to sudden hearing loss (SHL). These MTHFR gene polymorphisms may increase the risk of SHL by affecting vascular function.

Area of Science:

  • Genetics
  • Otolaryngology
  • Cardiovascular Medicine

Background:

  • Sudden hearing loss (SHL) can stem from vascular issues affecting the cochlea.
  • Inherited prothrombotic factors are implicated in vascular impairment.
  • Genetic factors are increasingly considered in SHL pathogenesis.

Purpose of the Study:

  • To investigate the association between SHL and specific MTHFR gene polymorphisms (677 and 1298).
  • To explore the role of MTHFR gene variations in the vascular underpinnings of SHL.

Main Methods:

  • DNA genotyping was conducted on peripheral blood leukocytes.
  • The study included 45 patients diagnosed with SHL and 135 healthy controls.

Main Results:

Related Experiment Videos

  • Wild-type MTHFR (677CC/1298AA) was more common in controls (P=0.01).
  • MTHFR gene polymorphisms (677CT, 677TT, 1298AC, 1298CC, and compound variants) were significantly more prevalent in SHL patients (P=0.005; Ptrend=0.001).

    • Conclusions:

    • MTHFR gene polymorphisms appear to be potential risk factors for SHL.
    • These genetic variations may contribute to vascular impairment associated with SHL.
    • Larger studies are required to confirm the role of MTHFR polymorphisms in SHL etiology.