Alternations Seen in RNA Splicing and Protein Creation in Alzheimer’s Disease

Alternations Seen in RNA Splicing and Protein Creation in Alzheimer’s Disease
Using a technique called genome-wide mapping, researchers were able to identify specific variations in RNA splicing from brain tissue taken from 450 people who were part of clinical studies into aging. This work — which identified hundreds of altered splicing events, which affect protein production — in Alzheimer's, and may offer new ways of diagnosing and treating this disease. The study, “Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility,” was published in the journal Nature Genetics. All genetic information contained within genes (DNA) is ultimately translated into proteins. However, several complex steps exist before a protein can be produced. DNA is transformed into pre-messenger RNA (pre-mRNA), which is then processed to create a mature mRNA — messenger RNA — molecule. This process is called RNA splicing. Once mRNA molecules are produced, a process called translation begins, and it is this process that gives rise to proteins. During splicing, introns (the part of the pre-mRNA that does not code for proteins) are removed, and exons (the part that does) are joined together. This allows for a single gene to give rise to many different proteins — much like adding certain ingredients to, or leaving them out of, a recipe results in different dishes. Mutations involved in how splicing is regulated are linked to several diseases, including amyotrophic lateral sclerosis (ALS) and autism. Researchers at the Icahn School of Medicine at Mount Sinai and
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