Milestones toward cochlear gene therapy for patients with hereditary hearing loss

AbstractProgressive non-syndromic sensorineural hearing loss (PNSHL) is the most common cause of sensory impairment, affecting more than a third of individuals over the age of 65. PNSHL includes noise-induced hearing loss (NIHL) and inherited forms of deafness, among which is delayed-onset autosomal dominant hearing loss (AD PNSHL). PNSHL is a prime candidate for genetic therapies due to the fact that PNSHL has been studied extensively, and there is a potentially wide window between identification of the disorder and the onset of hearing loss. Several gene therapy strategies exist that show potential for targeting PNSHL, including viral and non-viral approaches, and gene editing versus gene-modulating approaches. To fully explore the potential of these therapy strategies, a faithful in vitro model of the human inner ear is needed. Such models may come from induced pluripotent stem cells (iPSCs). The development of new treatment modalities by combining iPSC modeling with novel and innovative gene therapy approaches will pave the way for future applications leading to improved quality of life for many affected individuals and their families.

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Molecular genetic landscape of hereditary hearing loss in Pakistan

Human Genetics ◽

10.1007/s00439-021-02320-0 ◽

2021 ◽

Author(s):

Sadaf Naz

Keyword(s):

Hearing Loss ◽

Molecular Genetic ◽

Hereditary Hearing Loss ◽

Genetic Landscape

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Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population

Journal of Human Genetics ◽

10.1038/jhg.2015.82 ◽

2015 ◽

Vol 60 (10) ◽

pp. 613-617 ◽

Cited By ~ 10

Author(s):

Mirei Taniguchi ◽

Hirotaka Matsuo ◽

Seiko Shimizu ◽

Akiyoshi Nakayama ◽

Koji Suzuki ◽

...

Keyword(s):

Hearing Loss ◽

Carrier Frequency ◽

Japanese Population ◽

Hereditary Hearing Loss ◽

Gjb2 Mutations

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Advances and challenges in adeno-associated viral inner-ear gene therapy for sensorineural hearing loss

Molecular Therapy — Methods & Clinical Development ◽

10.1016/j.omtm.2021.03.005 ◽

2021 ◽

Vol 21 ◽

pp. 209-236

Author(s):

Kamakshi Bankoti ◽

Charles Generotti ◽

Tiffany Hwa ◽

Lili Wang ◽

Bert W. O’Malley ◽

...

Keyword(s):

Gene Therapy ◽

Hearing Loss ◽

Sensorineural Hearing Loss ◽

Inner Ear ◽

Sensorineural Hearing

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Perda auditiva genética

Revista Brasileira de Otorrinolaringologia ◽

10.1590/s0034-72992003000100016 ◽

2003 ◽

Vol 69 (1) ◽

pp. 100-104 ◽

Cited By ~ 11

Author(s):

Ricardo Godinho ◽

Ivan Keogh ◽

Roland Eavey

Keyword(s):

Hearing Loss ◽

Home Page ◽

Hereditary Hearing Loss

O progresso das pesquisas relacionadas à perda auditiva genética tem provocado um importante avanço do entendimento dos mecanismos moleculares que governam o desenvolvimento, a função, a resposta ao trauma e o envelhecimento do ouvido interno. Em países desenvolvidos, mais de 50% dos casos de surdez na infância é causada por alterações genéticas e as perdas auditivas relacionadas à idade têm sido associadas com mecanismos genéticos. OBJETIVO: O objetivo desta revisão é relatar as informações mais recentes relacionadas às perdas audtivas de origem genética. FORAMA DE ESTUDO: Revisão sistemática. MATERIAL E MÉTODO: A revisão da literatura inclui artigos indexados à MEDLINE (Biblioteca Nacional de Saúde, NIH-USA) e publicados nos últimos 3 anos, além das informações disponíveis na Hereditary Hearing Loss Home Page. CONCLUSÃO: Os recentes avanços no entendimento das perdas auditivas de origem genética têm favorecido a nossa compreensão da função auditiva e tornado o diagnóstico mais apurado. Possivelmente, no futuro, este conhecimento também proporcionará o desenvolvimento de novas terapias para o tratamento das causas genéticas das perdas auditivas.

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