On October 10, a research group led by Associate Professor Takehiko Ueyama of the BioSignal Research Center of Kobe University and Shinichiro Kitajiri of the Department of Otorhinolaryngology and Head and Neck Surgery, Graduate School of Medicine, Kyoto University announced a genetic mutation that causes hereditary sensory hearing loss. He announced that he had succeeded in producing a genetically engineered mouse that reproduced the pathology of a hearing-impaired patient.
The birth rate of patients with hereditary sensory deafness is 1-2 / 1000, which is a very frequent hereditary disease.However, at present, there is no radical cure.This time, a research group led by Associate Professor Ueyama and Researcher Kitajiri conducted an exome analysis using a next-generation sequencer in 1120 patients with hearing loss of unknown cause, and discovered a gene mutation.
As a result, it was found in the gene of DIA1 (DIAPH1), a molecule involved in the elongation of linear actin fibers that play an important role in the formation and maintenance of hair cells in the auditory and inner ear. It was proved that the mutant protein of DIA1 is an activated mutant that elongates actin fibers even in the absence of irritation.Furthermore, we generated mice genetically engineered to express this DIA1 mutant protein, and confirmed that the pathophysiology of hereditary sensorineural deafness patients could be reproduced.
The group expects the development of new therapeutic agents for patients with hearing loss through research using these mice in the future.
