遗传性听力损失精准治疗
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遗传性听力损失精准治疗现曙光
Ke Ji Ri Bao· 2025-08-19 01:22
Core Insights - A research team led by Fudan University and Seoul National University has developed a potential precision treatment strategy for hereditary hearing loss, recently published in the journal Nature Communications [1][2] - Hearing impairment is one of the most common sensory disorders, affecting approximately 430 million people globally, which is about 5% of the world's population [1] - The study identified MPZL2 gene mutations as a common cause of hereditary mild to moderate sensorineural hearing loss (SNHL) in East Asian populations, with specific mutations showing a founder effect [1] Group 1 - The research involved a systematic etiological analysis of 1,437 unrelated hereditary hearing loss families, identifying pathogenic genes in 155 patients, with 24 cases linked to MPZL2 mutations, accounting for 15.5% [1] - Among the identified cases, 23 patients carried at least one c.220C>T allele mutation, representing a high prevalence of 95.8%, suggesting it may be a founder mutation in East Asia [1] Group 2 - The team created a humanized mouse model that replicated the auditory phenotype of human patients with MPZL2 gene mutations [2] - A novel adenine base editor system with enhanced flexibility was developed, successfully correcting the abnormal expression of the MPZL2 gene, leading to significant hearing recovery in the mouse model for at least 20 weeks without noticeable off-target effects [2] - This research not only offers a potential treatment strategy for hereditary hearing loss but also expands the application of single-base editing technology in genetic diseases [2]