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Key molecular switch linked to HD identified

January 11, 2020

The researchers found that full-length mhtt induced motor and psychiatric-like behavioral deficits, mhtt aggregation, and selective neurodegeneration in the SA mice but that these pathological changes were absent in the SD mice. In addition, SD mutations had a dramatic impact on the process of mhtt protein aggregation while SA mutations did not. Taken together, the findings demonstrate that subtle molecular changes of only two amino acids in full-length mhtt dramatically reduced the pathogenic potential of the mutant protein.

"It is now crucial to understand how subtle modifications in this critical molecular switch can have such a profound impact on disease pathogenesis," said Yang. "It is also important to screen for drugs that can enhance or mimic the effects of phosphorylation which may help to detoxify the mutant huntingtin protein and prevent the onset of HD."

Source: Cell Press