Inborn to become deaf the blind mechanism part is found

Inborn to become deaf the blind mechanism part is found
It is reported ' Reporter Li TianShu) On February 16, Shanghai of Chinese Academy of Sciences employs the physical research institute to release news and claim, should order scientific department Professor Zhang MingJie to study team unity with Hong Kong scientific and technological university students, some blind mechanisms that the mutation which finds actin 7a causes to become deaf inbornly. This research results are issued on latest Science.

The dysaudia is one of the most common inborn defects, the incidence is 1%. ~3% . . In becoming deaf or weak neonate that listens to, 3%~6% are Usher syndrome patient. Usher syndrome is also called hereditary deafness - retinal pigment sex change syndrome, it is genetic disease, caused by gene mutation, slight Usher syndrome can cause hearing to fail, eyesight to drop, it can cause the patient to be deaf and dump and losing one's sight that severe.

Actin 7a is a molecule that is responsible for transporting cell body, the role that takes on in human hearing and visual development is particularly important. Discover, in Usher syndrome patient, mutation take place in about half the actin 7a genes. The intersection of science of heredity and investigation find some can in combination with actin 7a albumen, its gene mutation will cause Usher syndrome too. However, as to the thing that how actin 7a genetic mutation causes Usher syndrome, it has been a mystery all the time.

Zhang MingJie studies the group and utilizes the crystal X-ray diffraction data that employs the physical research institute to gather in Shanghai, have succeeded in analyzing the actin 7a and molecular structure of another protein Sans that can cause Usher syndrome, and analyse and explain actin 7a transportation way in different cells. Researchers find, gene mutation takes place in actin 7a, influence its normal " transport " The function, has caused Usher syndrome finally.



Inborn to become deaf the blind mechanism part is found