An international research team has uncovered a new mechanism crucial to the production of cellular proteins.
Goethe University FrankfurtNov 15 2024 When this mechanism is disrupted, the blueprints used by the cell to produce proteins are inaccurately edited through a process called splicing. The study, led by Goethe University Frankfurt, sheds light on how specific mutations may lead to the retinal disease retinitis pigmentosa .
This diversity is enabled by a process known as "splicing." When a cell requires a protein, it generates a copy of the relevant instructions in the cell nucleus. During splicing, this transcript undergoes modification: a cellular editing complex, the spliceosome, removes certain segments. The outcome varies depending on which parts are cut out, resulting in distinct blueprints for different proteins.This process is crucial for the life of the cell.
"We already knew that certain mutations in these subunits are linked to the eye disease retinitis pigmentosa," says Dr. Cristian Prieto-Garcia from the Institute of Biochemistry II, the first author of the study. "What we didn't yet understand was the exact impact of these mutations."In experiments with zebrafish, the team has now managed to fill this knowledge gap.
Cell Death Protein Biochemistry Cancer Cell Nucleus Genes Genome Retinitis Pigmentosa Splicing
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