An international research team led by Ivan Dstrokiki of the Institute for Biochemistry II of the Goethe University in Frankfurt has discovered a new mechanism key to the production of cellular proteins, which opens the door to the diagnosis of a number of diseases including and certain types of cancer, Parkinson’s and Alzheimer’s disease, was published in č the journal Science.
Đikić in a press release on the occasion, he pointed out that the study explains the development of retinal disease retinitis pigmentosa and opens the door to new diagnostic tests and treatments for a number of other diseases, including certain types of cancer, Parkinson’s and Alzheimer’s disease.
Our cells can produce several hundreds of thousands of different proteins and this diversity is made possible by a process known as “splicing”, explains Đikić.
During splicing, the genetic transcript undergoes modification in a cellular complex called the spliceosome, which results in the formation of different proteins, he says.
If this complex is disturbed, it can lead to the death of the affected cell. For this reason, spliceosome inhibitors have been developed and tested as potential anticancer drugs. In the mentioned study, the researchers identified a mechanism that interferes with the fusion process in a more subtle way.
“The discovery of this mechanism was unexpected,” said &Dstrokiki. “We suspect that it could also explain why retinal cells in patients with retinitis pigmentosa die. Defective splice variants may also play a role.” in the development of neurodegenerative diseases such as Alzheimer’s or Parkinson’s disease.
On the other hand, this mechanism may be aimed at new therapeutic approaches for cancer types that largely depend on the proper function of the spliceosome, he said.
The first author of the study is Cristian Prieto-Garcia from the Institute of Biochemistry II, who pointed out that moreć knew that certain mutations in these individuals were associated with the eye disease retinitis pigmentosa, but, he added, what they didn’t understand was the exact impact of those mutations.