Advances in hereditary hearing loss caused by TMC1 mutations.
10.3760/cma.j.issn.1673-0860.2016.03.016
- VernacularTitle:TMC1突变致遗传性耳聋的研究进展
- Author:
Kaiwen WU
1
;
Hongyang WANG
1
;
Qiuju WANG
1
Author Information
1. Department of Otorhinolaryngology Head and Neck Surgery, Institute of Otorhinolaryngology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
- Publication Type:Journal Article
- MeSH:
Animals;
Cochlea;
metabolism;
Disease Models, Animal;
Hair Cells, Auditory, Outer;
metabolism;
Hearing Loss, Sensorineural;
genetics;
Humans;
Membrane Proteins;
genetics;
Mice;
Mutation
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2016;51(3):224-229
- CountryChina
- Language:Chinese
-
Abstract:
Hearing loss is the most frequent sensorineural disorder worldwild, among which about 50% are caused by genetic factors. TMC1 is one of the common genes causing hereditary hearing loss. TMC1 mutations can cause pre-lingual profound/severe autosomal recessive (DFNB7/11) and post-lingual progressive autosomal dominant (DFNA36) non-syndromic hearing loss. Murine models studies show that TMC1, 2 are expressed in cochlea inner and outer hair cells and maintain normal mechanoelectrical transduction (MET) functions of the hair cells. A growing number of evidence indicate that TMC1, 2 are components of the MET complex. It is necessary to definite the precise distribution and exact function of TMC1, 2, because it is important to understand the regulating mechanism of auditory function.
