Discovery of a genetic mutation that causes 3 types of diseases at the same time – | RCO News Agency

According to Mehr news agency, citing University of Tehran, in a research conducted by Leila Rezaei Soumeh, PhD student of Biochemistry and Biophysics Research Center, under the guidance of Reza Yousefi, the effect of four pathogenic mutations P51L, R56Q, R123W and R157C on this key protein was investigated.

This research was carried out under the title “Role of pathogenic mutations R157C, R123W, R56Q, P51L on the structure, stability, chaperone activity and amyloid properties of recombinant human alpha B-crystallin protein”.

In this study, researchers produced mutant proteins in the laboratory and investigated their molecular behavior using advanced purification and analysis methods.

The results showed that these mutations cause structural instability of the protein and reduce its ability to protect cells from programmed death and prevent the accumulation of damaged proteins.

Also, in the mutant samples, the formation of amyloid fibrils, toxic protein structures seen in diseases such as cardiomyopathy and Alzheimer’s, was significantly increased.

These findings explain why some genetic mutations in the protein alpha B-crystallin, despite its widespread presence in tissues such as the eye, can lead to heart disease.
Knowing these molecular mechanisms opens a new window towards the design of drugs and treatment strategies for diseases caused by the accumulation of unstable proteins.

“Alpha B-crystallin” protein acts as a guard in the body, which helps to maintain the health of cells, especially in the lens of the eye, by preventing the destruction and adhesion of other proteins. But when the structure of this protein is changed due to genetic mutations, its protective function is impaired and it can cause diseases such as cataracts, heart failure, muscle wasting and even neurological disorders.

This research is a fundamental step in understanding the relationship between the disorder of ocular proteins and systemic diseases, and it is hoped that its developments will pave the way for more targeted treatments in the future.