Gene mutation can leads to brain malformation

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Gene controls nerve stem cell growth and how it causes abnormal brain development in fetuses if the system goes wrong. Researchers explained how Dmrta2 controls gene in the division of cells and the production of specialised cells.

If Dmrta2 gene mutation is inherited from parents, it can cause brain malformations known as lissencephaly. Lissencephaly is a nervous system disorder in which a baby’s brain is not fully developed.

Lissencephaly occurs in the second trimester of pregnancy, and leaves the fetus with a small brain and it prevents the development of brain folds and grooves which are needed for language skills and learning.

Researchers genetically mutated the Dmrta2 gene in embryonic stem cells to check the impact of too much or too little protein levels on brain development.

 They examined the effect of these changes on laboratory-created nerve cells, it shows a direct link between Dmrta2 mutation and the microcephaly.

When Dmrta2 gene is not maintaining balance between neurogenesis and cell cycle progression, brain development is altered. This can cause neurodevelopmental condition like autism.
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