IISc finds how faulty gene DDX3X damages brain cells

How a faulty gene makes brain cells turn on themselves

Bengaluru: IISc scientists have shown how mutations in the DDX3X gene, a leading genetic cause of intellectual disability in women, turn a protective cell mechanism into a neuron-killer. DDX3X normally helps form…

The Story in Brief

Bengaluru: IISc scientists have shown how mutations in the DDX3X gene, a leading genetic cause of intellectual disability in women, turn a protective cell mechanism into a neuron-killer. DDX3X normally helps form temporary stress granules that dissolve once the cell copes. Mutations make these granules solid and persistent, eventually killing brain cells. The study also found that some mutations encourage aggregation of beta-amyloid, a protein tied to Alzheimer’s, though the authors stress this does not mean DDX3X causes Alzheimer’s. The work offers the first molecular explanation for how different mutations in DDX3X syndrome converge on the same damage pathway.

The Indian Opinion

This IISc study is elegant molecular biology, not a cure. Media must resist calling it a ‘breakthrough for Alzheimer’s’, the link is circumstantial, not causal. The real test will come when labs try to dissolve those persistent stress granules in living animals, not just in dishes. Until then, families of children with DDX3X syndrome should see cautious hope, not headlines promising therapy tomorrow.


Source: timesofindia.indiatimes.com

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