Scientists have identified a gene that can help prevent the development of neurological disorders like Alzheimer’s and Parkinson’s disease.
According to the researchers, faulty proteins are formed during failed biologically controlled “proofreading” during information transfer from gene to protein.
These faulty proteins can have harmful deposits or aggregates which may cause such disorders.
The study, published in the journal Nature, showed that the new gene “Ankrd16” rescued specific neurons — called Purkinje cells — that die when the proofreading fails.
Without the normal levels of “Ankrd16”, these nerve cells, located in the cerebellum, incorrectly activate the amino acid serine, which is then improperly incorporated into proteins causing harmful deposits.
“Simplified, you may think of ‘Ankrd16’ as acting like a sponge or a ‘failsafe’ that captures incorrectly activated serine and prevents this amino acid from being improperly incorporated into proteins, which is particularly helpful when the ability of nerve cells to proofread and correct mistakes declines,” said Susan Ackerman from University of California, San Diego.
The level of ‘Ankrd16’ in Purkinje cells is generally low which makes it vulnerable to the proofreading fails. Using mouse models, the team showed that increasing the levels of this gene protects the cell from dying. They also found that removing ‘Ankrd16’ from the cells increased neuronal death due to abnormal proteins.
The researchers describe ‘Ankrd16’ as “… A new layer of the machinery essential for preventing severe pathologies that arise from defects in proofreading”.
They also noted that only a few modifier genes of disease mutations such as ‘Ankrd16’ have been identified. (IANS)