Connexin 26-Related Hearing Loss
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Connexin 26-Related Hearing Loss is the most common cause of non-syndromic hereditary hearing loss, accounting for approximately 50% of autosomal recessive cases in many populations. The term "non-syndromic" means the hearing loss occurs without other associated medical problems.
The GJB2 gene encodes connexin 26, a gap junction protein that forms channels between cells. These channels are essential for recycling potassium ions in the inner ear, a process critical for converting sound waves into electrical signals that the brain can interpret. When connexin 26 is abnormal or absent, this process is disrupted, leading to hearing loss.
The hearing loss associated with GJB2 mutations is typically present from birth (congenital) and is usually stable over time, though the severity can range from mild to profound. Most commonly, the hearing loss is bilateral (affecting both ears) and sensorineural (involving the inner ear rather than the outer or middle ear).
GJB2-related hearing loss is inherited in an autosomal recessive pattern, meaning a child must inherit one mutated copy from each parent to be affected. Carriers (those with one mutated copy) typically have normal hearing. Different mutations in GJB2 vary in prevalence among different ethnic groups, with certain mutations being more common in specific populations.
NutraHacker examines the following gene related to Connexin 26-Related Hearing Loss:
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