Researchers Identify Gene That Helps Prevent Brain Disease
Protein ‘proofreading’ errors lead to neurodegenerative disease
Scientists know that faulty proteins can cause harmful deposits or “aggregates” in neurological disorders such as Alzheimer’s and Parkinson’s disease. Although the causes of these protein deposits remain a mystery, it is known that abnormal aggregates can result when cells fail to transmit proper genetic information to proteins. University of California San Diego Professor Susan Ackerman and her colleagues first highlighted this cause of brain disease more than 10 years ago. Now, probing deeper into this research, she and colleagues have identified a gene, Ankrd16, that prevents the protein aggregates they originally observed.
Usually, the information transfer from gene to protein is carefully controlled—biologically “proofread” and corrected—to avoid the production of improper proteins. As part of their recent investigations, Ackerman, Paul Schimmel (Scripps Research Institute) My-Nuong Vo (Scripps Research Institute) and Markus Terrey (UC San Diego) identified that Ankrd16 rescued specific neurons—called Purkinje cells —that die when proofreading fails. Without normal levels of Ankrd16, these nerve cells, located in the cerebellum, incorrectly activate the amino acid serine, which is then improperly incorporated into proteins and causes protein aggregation.
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