Gjb2 gene transfer for Connexin26 associated hereditary deafness

2015 Fiscal Year Final Research Report

• Project/Area Number: 25462654
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Otorhinolaryngology
• Research Institution: Juntendo University
• Principal Investigator: Iizuka Takashi 順天堂大学, 医学部, 非常勤助教 (40372932)
• Co-Investigator(Kenkyū-buntansha): IKEDA Katsuhisa 順天堂大学, 医学部, 教授 (70159614) ; KAMIYA Kazusaku 順天堂大学, 医学部, 准教授 (10374159)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: 遺伝性難聴 / 遺伝子治療 / コネキシン

Outline of Final Research Achievements

Hearing loss is the most widespread sensory disorder, with an incidence of congenital genetic deafness of 1 in 1600 children. For manyethnic populations, the most prevalent form of genetic deafness is caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not completely recover speech perception. Here we used a gene delivery system to rescue hearing in a mouse model of Gjb2 deletion. Mice lacking Cx26 are characterized by profound deafness from birth and improper development of cochlear cells. Cochlear delivery of Gjb2 using an adeno-associated virus significantly improved the auditory responses and development of the cochlear structure. Using gene replacement to restore hearing in a new mouse model of Gjb2-related deafness may lead to the development of therapies for human hereditary deafness (Iizuka, Human Molecular Genetics, 2015.

Free Research Field

耳鼻咽喉科学