Important new insights into the pathology of Usher syndrome

Human Usher syndrome (USH) is the most common hereditary deafness and blindness

Need to further study how SANS protein promotes the development of blindness

Professor Uwe Wolfham said: "Our goal is to clarify the molecular basis of the degeneration of the photoreceptor cells of the eye in the case of Usher syndrome

It is not clear how SANS promotes the pathogenesis of the eye

SANS regulates splicing of pre-mRNA

Splicing is an important process from coding genes to protein biosynthesis

"We were surprised by our discovery that SANS is not only a component of cilia that is transported to the cell surface, but it is also active in the nucleus and can regulate the splicing process there," Wolfrum said, citing their published results in nucleic acid research

The deletion of SANS and the pathogenic mutation of the USH1G/SANS gene prevented the correct assembly and sequential activation of the spliceosome

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Related Links:

https:// -Wolfham Laboratory, JGU Institute of Molecular Physiology, USA;

https:// Institute of Molecular Physiology