Remarkable New Insights Into The Pathology Of Usher Syndrome

Remarkable New Insights Into The Pathology Of Usher Syndrome

USH or the Human Usher Syndrome is a form of deaf or blindness. It is totally hereditary. The patient can be a sufferer of deafness or blindness from birth. However, they can also face partial disorders and tend to lose power with the progress of the disease.

Remarkable New Insights Into The Pathology Of Usher Syndrome

For several years, Professor Uwe Wolfrum led a team that carried researches on this subject. He got cooperation from various eminent scholars. After 25 years of long research, the team managed to identify novel pathomechanism. This is the primary reason behind Usher Syndrome.

Remarkable New Insights Into The Pathology Of Usher Syndrome

Details About The USH Research

In the splicing process regulation, the role of 1G protein SANS is crucial. Moreover, according to the experts, errors in splicing the genes occur mainly because of defective SANS. Therefore, the excessiveness of such symptoms can give rise to Usher Syndrome.

Splicing is the process taking place proteins biosynthesis from the coding genes. During the process, from the pre-mRNA, the non-coding introns got eliminated. In the case of the alternative splicing, you will see the exclusion of the exons. The final mRNA plays a significant part in the process of biosynthesis of proteins.

A surprising factor came in the experiment. SANS does not only reside in the cell’s surface but also is there in the nucleus. The catalysis of the splicing process takes place within this nucleus. SANS transfers the tri-snRNP complexes.

Furthermore, it can also transfer the spliceosome sub-complexes. The later transfer takes place from the Cajal bodies to the nuclear speckles. Cajal bodies refer to an assembly line made of molecules. You can find SANS to actively participate in the recycling process too. This involves the transferring back of the tri-snRNP components to the Cajal Bodies.

Contribution Of SANS Proteins In Blindness

In Usher Syndrome, blindness occurs due to the degeneration of photoreceptor cells. These cells are highly sensitive to light. In order to safeguard against hearing loss, cochlea implants can be helpful. Currently, no proper treatment is there for the blindness associated with Usher Syndrome.

Researchers are mainly focusing on the primary factor that is SANS. There are many domains of this protein. It leads to the accurate function of the cells. The vestibular hair cells and the auditory cells can suffer from various malfunctions. Moreover, the SANS gene is also responsible for the issues with the retina. For Usher Syndrome victims, sensory defects arise in the retina’s photoreceptor cells.

However, the activity of SANS in the case of the pathogenic process is still not known. USG1G gene makes the presence of SANS in the glia and photoreceptor cells quite clear. Till this time, Wolfrum and his team believed that SANS is only a scaffold molecule. It only exhilarates the transmission process within the cytoplasm. This cytoplasm has connections with the ciliary extensions. However, a recent study revealed a lot more about the characteristics of this protein.

In the thesis of Adem Yildirim, the interaction of SANS with the splicing factors are quite evident. Moreover, it is active in regulating pre-mRNA splicing.

The patients’ Usher Syndrome face severe disorders due to incorrect splicing process. This happens mainly because the USH1G/SANS gene gives rise to pathogenic mutations. Additionally, the absence of SANS also contributes to this activity. Ultimately, professors showed how splicing dysregulation gave place to the development of different disorders.

Experiments are still going on with the multiple therapies applicable to the Usher Syndrome victims. Various new concepts are coming up gradually related to the splicing mechanism. The summation of the results is giving clarity on the subject.

However, numerous questions are still remaining unanswered. In the near future, scientists will definitely come up with suitable remedies for the patients. Wolfrum is indicating the detailed investigation concerned with the topic.


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