Identifying an important protein mutation that causes cataracts and blindness – | Iranian and world news

According to RCO News Agency, the findings of the doctoral dissertation of Farid Nasiri, a doctoral student at the University of Tehran, entitled “The Role of Leap (P.R107L) on Structure, Sustainability, Printing and Fibrillation of Alpha-B Cristaline Humanity” under the guidance of Dr. Reza Yousefi, Professor of Biosfi Cataracts and blindness lead to blindness.

Researchers at the Protein Chemistry Laboratory at the Biochemical and Biophysics Research Center, using targeted mutation methods, produced mutant protein in the bacterial host and recombinant.

In this study, the structural characteristics and biological activity of protein were investigated using different spectroscopic and microscopic methods.

The results of this study showed that this pathogenic mutation changes the second to fourth structure of human alpha-B crystaline and significantly reduces its structural activity and stability.
These fundamental changes in the structure and biological activity of Crystaline Alpha-B can lead to the accumulation of other proteins in the lens and the formation of larger particles with light distribution capability, which ultimately contribute to the development of cataract disease.
The findings of this study can lead to the design of effective drugs, including small molecules with peptides that target mutated protein, preventing it from accumulating along with other lens proteins, the ultimate consequence of which is delayed or prevented by cataracts.

The results of this study are published in an international journal that is available through this link.

According to the World Health Organization, cataracts are one of the main causes of blindness around the world. Approximately 1.5 billion people worldwide suffer from visual disorders, with 5 million of which have cataracts. In year 2, a dot mutation was identified in a human-alpha crystaline gene that leads to cataracts. However, the biochemical mechanism of this mutation and its effect on the incidence of the disease has not been determined.