New Genes Linked to Familial Meniere’s Disease, Study Shows

Meniere’s disease is a rare inner ear disorder characterized by “attacks” of tinnitus, ear pain, ear pressure, and dizziness. While doctors have long pondered the exact cause of this condition, some believed that genetic predisposition could play a role. In fact, an estimated 10% of those affected have a family history. According to News Medical, researchers and scientists from GENYO, ibs. GRANADA, and the University of Granada recently discovered genes linked to the development of familial Meniere’s disease.

Interested in checking out the full research findings? They are published in Hearing Research.

Meniere’s Disease

To begin, let’s take a look at what exactly Meniere’s disease is. As described above, this inner ear disorder results from abnormal fluid (endolymph) accumulation in the inner ear. Approximately 10% of patients have a family history of Meniere’s disease. Other potential factors or causes include viral infections, allergies, abnormal immune reactions, head trauma, or improper fluid drainage. This condition often manifests in middle age, with many diagnoses occurring between the 40s-50s. However, the symptoms usually occur in “attacks” or “episodes,” with asymptomatic periods. Additionally, many people go into remission within a few years. When symptoms do appear, these include:

  • Vertigo
  • Nausea, vomiting, and sweating
  • Headache
  • Aural fullness (a feeling of fullness in the ear)
  • Tinnitus (ringing/roaring in the ear)
  • Hearing loss (usually just in the affected ear)
  • Loss of balance

Learn more about Meniere’s disease.

The Research

Within this particular study, researchers wanted to understand the relationship between heredity and Meniere’s disease. To begin, researchers sourced data from 62 families affected by this condition. Researchers found that families tended to have rare genetic mutations that affected a few specific genes, such as MY07APCDH15ADGRV1, and CDH23. In particular, researchers determined that MY07A mutations, in conjunction with a rare mutation in another gene, can cause difficulties with balance and aural function.

Ultimately, the researchers believe that MY07A mutations can affect inner-ear hair cells, and thus affect hearing. However, in combination with other mutations, these variants prevent stereocilia formation and function; stereocilia help transmit sound within the ears. When MY07A mutations interact with other mutations, they prevent stereocilia from working properly, leading to hearing loss, dizziness, and other symptoms.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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