Gene mutations coupled with neonatal diabetes may be responsible for other neurological dysfunctions! The mutations of the KCNJ11 gene are involved in up to 50% of neonatal diabetes. The same mutations cause a developmental delay, epilepsy and muscle weakness syndrome. The researchers suppose that as the gene is articulated in tissues and muscles, the mutation results in neurological features.



In the study at Churchill Hospital, Oxford, researchers presented a mutation of C166F in the gene KCNJ11. They showed C166F and two other known KCNJ11 mutations’ engagement in diabetes. It lead to syndrome known as ‘developmental delay, epilepsy and neonatal diabetes,’ or DEND.



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